W22R (p.Trp22Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
W22R (p.Trp22Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
W22R (p.Trp22Arg) variant details
- p.Trp22Arg
- gnomAD 6-32038486-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.462
- CADD 0.87
- PolyPhen-2 0.00
- SIFT 0.50
- Most common in the Middle Eastern population (allele frequency 0.00018)
- Structural context available
- Literature evidence available