G5V (p.Gly5Val) variant of GNAS (P63092)
G5V (p.Gly5Val) in GNAS (P63092) 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 and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- cosmic curated COSV55672
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.58
- CADD 19.20
- PolyPhen-2 0.46
- SIFT 0.01
- Population evidence available
- Structural context available