G7S (p.Gly7Ser) variant of RASA1 (Ras GTPase-activating protein 1)
G7S (p.Gly7Ser) 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 Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, experimental measurements, and structural context.
G7S (p.Gly7Ser) variant details
- p.Gly7Ser
- rs1250999130
- ClinGen CA360416619
- ClinVar RCV002417096
- gnomAD rs1250999130
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.393
- REVEL 0.17
- CADD 22.00
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.366