H29P (p.His29Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
H29P (p.His29Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data and structural context.
H29P (p.His29Pro) variant details
- p.His29Pro
- Ensembl rs1582299493
- Missense
- Variant Prioritization Score for Impact Estimate 0.152
- CADD 12.50
- PolyPhen-2 0.04
- SIFT 0.20
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available