A16G (p.Ala16Gly) variant of RASA1 (Ras GTPase-activating protein 1)
A16G (p.Ala16Gly) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
A16G (p.Ala16Gly) variant details
- p.Ala16Gly
- gnomAD 5-87268498-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.308
- REVEL 0.22
- CADD 22.80
- PolyPhen-2 0.00
- SIFT 0.04
- Population evidence available
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.942
- Literature evidence available