E9D (p.Glu9Asp) variant of RASA1 (Ras GTPase-activating protein 1)
E9D (p.Glu9Asp) 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; Cardiovascular pheno. 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.
E9D (p.Glu9Asp) variant details
- p.Glu9Asp
- rs1205377315
- ClinGen CA360416639
- ClinVar RCV001227386
- ClinVar RCV002436880
- Uncertain significance
- Capillary malformation-arteriovenous malformation syndrome; Cardiovascular pheno
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- AlphaMissense 0.14
- MetaLR 0.40
- MetaSVM -0.61
- PolyPhen-2 0.96
- SIFT 0.09
- MutPred 0.11
- ClinVar: Uncertain significance (Capillary malformation-arteriovenous malformation syndrome; Card)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.796
- Cited in: Capillary Malformation-Arteriovenous Malformation Syndrome. (PMID 21348050)