P35Q (p.Pro35Gln) variant of CYP21A2 (Steroid 21-hydroxylase)
P35Q (p.Pro35Gln) 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 and published literature.
P35Q (p.Pro35Gln) variant details
- p.Pro35Gln
- gnomAD 6-32038526-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.773
- CADD 23.20
- PolyPhen-2 1.00
- SIFT 0.02
- Population evidence available
- Literature evidence available