P31T (p.Pro31Thr) variant of CYP21A2 (Steroid 21-hydroxylase)
P31T (p.Pro31Thr) 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.
P31T (p.Pro31Thr) variant details
- p.Pro31Thr
- gnomAD 6-32038513-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.00
- PolyPhen-2 0.90
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available