G22V (p.Gly22Val) variant of RASA1 (Ras GTPase-activating protein 1)
G22V (p.Gly22Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- gnomAD 5-87268516-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.15
- CADD 18.90
- PolyPhen-2 0.00
- SIFT 0.08
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.102
- Literature evidence available