E10K (p.Glu10Lys) variant of RASA1 (Ras GTPase-activating protein 1)
E10K (p.Glu10Lys) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, experimental measurements, and structural context.
E10K (p.Glu10Lys) variant details
- p.Glu10Lys
- ExAC rs769821061
- gnomAD rs769821061
- Missense
- Variant Prioritization Score for Impact Estimate 0.418
- REVEL 0.28
- CADD 24.20
- PolyPhen-2 0.05
- SIFT 0.04
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.434