P32L (p.Pro32Leu) variant of CYP21A2 (Steroid 21-hydroxylase)
P32L (p.Pro32Leu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
P32L (p.Pro32Leu) variant details
- p.Pro32Leu
- gnomAD 6-32038517-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- CADD 25.10
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available