A34S (p.Ala34Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
A34S (p.Ala34Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A34S (p.Ala34Ser) variant details
- p.Ala34Ser
- gnomAD 6-32038522-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- CADD 21.10
- PolyPhen-2 0.31
- SIFT 0.02
- Population evidence available
- Structural context available
- Literature evidence available