P13R (p.Pro13Arg) variant of RASA1 (Ras GTPase-activating protein 1)
P13R (p.Pro13Arg) in RASA1 (Ras GTPase-activating protein 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
P13R (p.Pro13Arg) variant details
- p.Pro13Arg
- rs761910879
- ClinGen CA3335310
- ClinVar RCV003760434
- ExAC rs761910879
- Conflicting interpretations
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.398
- REVEL 0.17
- CADD 23.40
- PolyPhen-2 0.14
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.00011)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.137
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)