G19V (p.Gly19Val) variant of RASA1 (Ras GTPase-activating protein 1)
G19V (p.Gly19Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G19V (p.Gly19Val) variant details
- p.Gly19Val
- gnomAD 5-87268507-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.18
- CADD 19.40
- PolyPhen-2 0.04
- SIFT 0.01
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.86
- Literature evidence available