Is RASA1 p.Val737= (c.2211A>C) pathogenic?

RASA1 p.Val737= (c.2211A>C) is classified Likely benign in RASA1 (ClinVar, Single submitter, 1 submitter; last evaluated 2021-08-31). Very rare (popmax 0.00668%, afr); Associated with Cardiovascular phenotype.

What condition is associated with RASA1 p.Val737= (c.2211A>C)?

RASA1 p.Val737= (c.2211A>C) is associated with Cardiovascular phenotype (ClinVar).

How common is RASA1 p.Val737= (c.2211A>C) in the general population?

RASA1 p.Val737= (c.2211A>C) is very rare (popmax 0.00668%, afr) (gnomAD).

RASA1 p.Val737=

c.2211A>C · rs997060149 · VCV1787772

Likely benign Single submitter

Classification

Likely benign

ClinVar

Review

Single submitter ★☆☆☆

ClinVar · 1 submitter

gnomAD v4.1

Rare

very rare (popmax 0.00668%, afr)

Conditions

Cardiovascular phenotype

⚠ Built without this gene's context — gene constraint and dosage, protein structure, pathways, panels and related-variant links were not looked up for this page. why

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 -0.17	GERP -5.2, phastCons 0.003
Overall
CADD	2.41	PHRED · no single calibrated threshold — expert panels disagree

Population frequency

gnomAD v4.1 · exomes + genomes

Grpmax group 0.00668% African / African-American · 5/74,840 alleles

Filtering AF 0.00255% ClinGen BA1/BS1 input FAF95, joint · FAF99 0.00162%

Overall 0.000311% 5/1,609,480 alleles · very rare exomes 3/1,457,238 · genomes 2/152,242 · joint denominator

Rarity supports pathogenicity (ACMG PM2); frequency above a disease-specific BA1/BS1 threshold argues against it. A variant frequent in one ancestry group can be near-absent in others, so a single global figure can mislead.

Variant & gene context

Gene: RASA1
Protein: p.Val737=
Coding: c.2211A>C
MANE Select: NM_002890
dbSNP: rs997060149
Type: single nucleotide variant
Location: chr5:87376907 (GRCh38)

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

Disease context

Cardiovascular phenotype — 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-val737 (accessed [today's date]).

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