A4V (p.Ala4Val) variant of RASA1 (Ras GTPase-activating protein 1)
A4V (p.Ala4Val) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A4V (p.Ala4Val) variant details
- p.Ala4Val
- gnomAD 5-87268462-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.31
- CADD 24.00
- PolyPhen-2 0.04
- SIFT 0.02
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.182
- Literature evidence available