A45E (p.Ala45Glu) variant of RASA1 (Ras GTPase-activating protein 1)
A45E (p.Ala45Glu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A45E (p.Ala45Glu) variant details
- p.Ala45Glu
- gnomAD 5-87268585-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- REVEL 0.15
- CADD 17.10
- PolyPhen-2 0.01
- SIFT 0.12
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.841
- Literature evidence available