Is RASA1 p.Val449= (c.1347A>G) pathogenic?

RASA1 p.Val449= (c.1347A>G) is classified Likely benign in RASA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2019-08-11). No allele count reported in gnomAD v4.1 (AN 1,592,040); Associated with capillary malformation-arteriovenous malformation syndrome.

What condition is associated with RASA1 p.Val449= (c.1347A>G)?

RASA1 p.Val449= (c.1347A>G) is associated with capillary malformation-arteriovenous malformation syndrome (ClinVar).

How common is RASA1 p.Val449= (c.1347A>G) in the general population?

RASA1 p.Val449= (c.1347A>G) is no allele count reported in gnomAD v4.1 (AN 1,592,040) (gnomAD).

RASA1 p.Val449=

c.1347A>G · rs2112456458 · VCV1081649

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Not reported

no allele count reported in gnomAD v4.1 (AN 1,592,040)

Conditions

capillary malformation-arteriovenous malformation syndrome

Computational evidence

Protein change
Missense predictors do not apply to this variant type; conservation carries the signal.
Splicing
SpliceAI	—	not looked up on this page · why
Constraint at this position
Conservation	phyloP 0.97	GERP -1.1, phastCons 0.99
Overall
CADD	4.804	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

No allele count reported in gnomAD v4.1 (AN 1,592,040). 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.Val449=
Coding: c.1347A>G
MANE Select: NM_002890
dbSNP: rs2112456458
Type: single nucleotide variant
Location: chr5:87362565 (GRCh38)

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

Disease context

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

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-val449 (accessed [today's date]).

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