G7D (p.Gly7Asp) variant of RASA1 (Ras GTPase-activating protein 1)
G7D (p.Gly7Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
G7D (p.Gly7Asp) variant details
- p.Gly7Asp
- gnomAD 5-87268471-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.472
- REVEL 0.30
- CADD 23.90
- PolyPhen-2 0.09
- SIFT 0.04
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.366
- Literature evidence available