A32E (p.Ala32Glu) variant of RASA1 (Ras GTPase-activating protein 1)
A32E (p.Ala32Glu) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A32E (p.Ala32Glu) variant details
- p.Ala32Glu
- gnomAD 5-87268546-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.208
- REVEL 0.07
- CADD 9.90
- PolyPhen-2 0.02
- SIFT 0.32
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.0302
- Literature evidence available