R17H (p.Arg17His) variant of CYP21A2 (Steroid 21-hydroxylase)
R17H (p.Arg17His) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
R17H (p.Arg17His) variant details
- p.Arg17His
- ExAC rs771570882
- gnomAD rs771570882
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- CADD 10.30
- PolyPhen-2 0.00
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Ashkenazi Jewish population (allele frequency 3.9e-05)
- Structural context available