Q42R (p.Gln42Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
Q42R (p.Gln42Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
Q42R (p.Gln42Arg) variant details
- p.Gln42Arg
- gnomAD 6-32038547-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.209
- CADD 11.60
- PolyPhen-2 0.16
- SIFT 0.19
- Population evidence available
- Structural context available
- Literature evidence available