L38S (p.Leu38Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
L38S (p.Leu38Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes population frequency data and structural context.
L38S (p.Leu38Ser) variant details
- p.Leu38Ser
- TOPMed rs1373570456
- Missense
- Variant Prioritization Score for Impact Estimate 0.478
- CADD 24.80
- PolyPhen-2 0.91
- SIFT 0.05
- Population evidence available
- Structural context available