L40P (p.Leu40Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
L40P (p.Leu40Pro) 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.
L40P (p.Leu40Pro) variant details
- p.Leu40Pro
- gnomAD 6-32038541-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.624
- CADD 23.60
- PolyPhen-2 0.99
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available