E5D (p.Glu5Asp) variant of RASA1 (Ras GTPase-activating protein 1)
E5D (p.Glu5Asp) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E5D (p.Glu5Asp) variant details
- p.Glu5Asp
- gnomAD 5-87268466-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.505
- REVEL 0.32
- CADD 26.30
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.331
- Literature evidence available