A25V (p.Ala25Val) variant of RASA1 (Ras GTPase-activating protein 1)
A25V (p.Ala25Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A25V (p.Ala25Val) variant details
- p.Ala25Val
- gnomAD 5-87268525-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.247
- REVEL 0.10
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.02
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.948
- Literature evidence available