P31L (p.Pro31Leu) variant of RASA1 (Ras GTPase-activating protein 1)
P31L (p.Pro31Leu) 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 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P31L (p.Pro31Leu) variant details
- p.Pro31Leu
- rs1484820367
- ClinGen CA360416765
- ClinVar RCV003049722
- ClinVar RCV005473305
- Uncertain significance
- Cardiovascular phenotype; Capillary malformation-arteriovenous malformation synd
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.15
- AlphaMissense 0.20
- MetaLR 0.20
- MetaSVM -0.94
- CADD 17.50
- PolyPhen-2 0.10
- ClinVar: Uncertain significance (Cardiovascular phenotype; Capillary malformation-arteriovenous m)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.6e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0567
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)