E5K (p.Glu5Lys) variant of RASA1 (Ras GTPase-activating protein 1)
E5K (p.Glu5Lys) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
E5K (p.Glu5Lys) variant details
- p.Glu5Lys
- gnomAD 5-87268464-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.573
- REVEL 0.42
- CADD 29.90
- PolyPhen-2 0.91
- SIFT 0.00
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.331
- Literature evidence available