H29R (p.His29Arg) variant of CYP21A2 (Steroid 21-hydroxylase)
H29R (p.His29Arg) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data, published literature, and structural context.
H29R (p.His29Arg) variant details
- p.His29Arg
- gnomAD 6-32038508-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.127
- CADD 9.03
- PolyPhen-2 0.02
- SIFT 0.27
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available