G11S (p.Gly11Ser) variant of RASA1 (Ras GTPase-activating protein 1)
G11S (p.Gly11Ser) 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 Capillary malformation-arteriovenous malformation syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G11S (p.Gly11Ser) variant details
- p.Gly11Ser
- rs774248606
- ClinGen CA3335309
- ClinVar RCV002653552
- ExAC rs774248606
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.27
- CADD 22.80
- PolyPhen-2 0.05
- SIFT 0.18
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.278
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)