Is RASA1 p.Phe134= (c.402T>C) pathogenic?

RASA1 p.Phe134= (c.402T>C) is classified Uncertain significance in RASA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2018-01-12). No allele count reported in gnomAD v4.1 (AN 1,613,688); Associated with capillary malformation-arteriovenous malformation 1.

What condition is associated with RASA1 p.Phe134= (c.402T>C)?

RASA1 p.Phe134= (c.402T>C) is associated with capillary malformation-arteriovenous malformation 1 (ClinVar).

How common is RASA1 p.Phe134= (c.402T>C) in the general population?

RASA1 p.Phe134= (c.402T>C) is no allele count reported in gnomAD v4.1 (AN 1,613,688) (gnomAD).

How is Parkes Weber syndrome inherited?

Typically Autosomal dominant, Not applicable (Orphanet). A genetic counselor can assess individual risk for a family.

RASA1 p.Phe134=

c.402T>C · rs1329000012 · VCV904567

Uncertain significance Single submitter

Classification

Uncertain significance

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,613,688)

Conditions

capillary malformation-arteriovenous malformation 1

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	<0.2	no splice effect predicted · four deltas, not one · how we know
Constraint at this position
Conservation	phyloP 0.12	GERP -2.6, phastCons 0.9
Overall
CADD	6.317	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,613,688). This is missing data, not an absence: the variant may or may not be present in gnomAD. Rarity (ACMG PM2) and BA1/BS1 cannot be assessed for it.

Variant & gene context

Gene: RASA1
Protein: p.Phe134=
Coding: c.402T>C
MANE Select: NM_002890
dbSNP: rs1329000012
Type: single nucleotide variant
Location: chr5:87268853 (GRCh38)
Gene constraint: LOEUF 0.3 · pLI 1.00 · ClinGen HI 3/3 (gnomAD)
Structure: AlphaFold pLDDT 77.37 · 15 PDB

Full RASA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, interactions & more

Disease context

capillary malformation-arteriovenous malformation 1 — disease report on Sugi Atlas → Associated genes, phenotypes, clinical trials & treatments

For Parkes Weber syndrome (Orphanet):

Inheritance: Autosomal dominant, Not applicable
Onset: Infancy, Neonatal

Similar variants

RASA1 p.Ala80Val Uncertain significance ★★ ⚠ same condition
RASA1 p.Gly112Arg Uncertain significance ★★ ⚠ same condition
RASA1 p.Lys118Arg Uncertain significance ★★ ⚠ same condition
RASA1 p.Pro48Arg Uncertain significance ★★ ⚠ same condition
RASA1 p.Thr15Ile Uncertain significance ★★ ⚠ same condition
RASA1 p.Ala99Val Benign/Likely benign ★★ same condition
RASA1 p.Glu54Asp Benign/Likely benign ★★ same condition
RASA1 p.Glu70Gly Benign/Likely benign ★★ same condition

Built on 18 open, versioned datasets — ClinVar, gnomAD, AlphaMissense, REVEL, ClinGen & more — plus Sugi Variant's own cross-source analysis. Source data 2026-01–2026-10, ClinVar 2026-10. Full sources & versions →

Cite Sugi Variant

Gür T. Sugi Variant: A Deterministic Per-Variant Germline Reference from a Knowledge Graph for Humans and AI Agents. 2026. doi:10.5281/zenodo.21509445. This variant: https://sugi.bio/variant/rasa1-p-phe134 (accessed [today's date]).

Preprint & method: sugi.bio/variant/method Machine-readable: this page as Markdown