Q42H (p.Gln42His) variant of CYP21A2 (Steroid 21-hydroxylase)
Q42H (p.Gln42His) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
Q42H (p.Gln42His) variant details
- p.Gln42His
- gnomAD 6-32038548-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- CADD 1.87
- PolyPhen-2 0.03
- SIFT 0.53
- Population evidence available
- Structural context available
- Literature evidence available