G5V (p.Gly5Val) variant of CYP21A2 (Steroid 21-hydroxylase)
G5V (p.Gly5Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD 6-32038436-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.263
- CADD 18.30
- PolyPhen-2 0.01
- SIFT 0.04
- Population evidence available
- Structural context available
- Literature evidence available