A29S (p.Ala29Ser) variant of RASA1 (Ras GTPase-activating protein 1)
A29S (p.Ala29Ser) 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 0.12 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A29S (p.Ala29Ser) variant details
- p.Ala29Ser
- rs777487947
- ClinGen CA3335321
- ClinVar RCV003068246
- ExAC rs777487947
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.07
- CADD 5.86
- PolyPhen-2 0.00
- SIFT 0.45
- 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 4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.879
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)