V36G (p.Val36Gly) variant of RASA1 (Ras GTPase-activating protein 1)
V36G (p.Val36Gly) in RASA1 (Ras GTPase-activating protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V36G (p.Val36Gly) variant details
- p.Val36Gly
- ExAC rs769577644
- gnomAD rs769577644
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.21
- CADD 22.90
- PolyPhen-2 0.03
- SIFT 0.01
- Most common in the East Asian population (allele frequency 0.00044)
- Structural context available
- RASA1 SH3 domain domainome 1.0: score -0.874