P43S (p.Pro43Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
P43S (p.Pro43Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data and structural context.
P43S (p.Pro43Ser) variant details
- p.Pro43Ser
- Ensembl rs1775996348
- Missense
- Variant Prioritization Score for Impact Estimate 0.679
- CADD 15.50
- PolyPhen-2 0.41
- SIFT 0.05
- Population evidence available
- Structural context available