P35A (p.Pro35Ala) variant of CYP21A2 (Steroid 21-hydroxylase)
P35A (p.Pro35Ala) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.73 / 1. The record also includes population frequency data and published literature.
P35A (p.Pro35Ala) variant details
- p.Pro35Ala
- gnomAD 6-32038525-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.726
- CADD 19.20
- PolyPhen-2 0.96
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available