P39A (p.Pro39Ala) variant of RASA1 (Ras GTPase-activating protein 1)
P39A (p.Pro39Ala) 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 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P39A (p.Pro39Ala) variant details
- p.Pro39Ala
- rs772125504
- ClinGen CA3335329
- ClinVar RCV001298671
- ExAC rs772125504
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.24
- CADD 18.30
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0088
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)