G20V (p.Gly20Val) variant of RASA1 (Ras GTPase-activating protein 1)
G20V (p.Gly20Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. 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.
G20V (p.Gly20Val) variant details
- p.Gly20Val
- gnomAD 5-87268510-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.397
- REVEL 0.32
- CADD 23.40
- PolyPhen-2 0.99
- SIFT 0.22
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.881
- Literature evidence available