H39R (p.His39Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
H39R (p.His39Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
H39R (p.His39Arg) variant details
- p.His39Arg
- gnomAD 6-32038538-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- CADD 23.70
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available