P39S (p.Pro39Ser) variant of RASA1 (Ras GTPase-activating protein 1)
P39S (p.Pro39Ser) 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 0.27 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P39S (p.Pro39Ser) variant details
- p.Pro39Ser
- ExAC rs772125504
- TOPMed rs772125504
- gnomAD rs772125504
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- REVEL 0.25
- CADD 19.80
- PolyPhen-2 0.07
- SIFT 0.00
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YI population (allele frequency 0.05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0088