E9G (p.Glu9Gly) variant of RASA1 (Ras GTPase-activating protein 1)
E9G (p.Glu9Gly) 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, and structural context.
E9G (p.Glu9Gly) variant details
- p.Glu9Gly
- Ensembl rs1580178377
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.35
- CADD 29.90
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.796