A6V (p.Ala6Val) variant of RASA1 (Ras GTPase-activating protein 1)
A6V (p.Ala6Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A6V (p.Ala6Val) variant details
- p.Ala6Val
- rs1010729751
- ClinGen CA16611923
- ClinVar RCV000469146
- ClinVar RCV002411513
- Uncertain significance
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.248
- REVEL 0.13
- CADD 16.50
- PolyPhen-2 0.00
- SIFT 0.93
- ClinVar: Uncertain significance (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 6.9e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.853
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)