H39N (p.His39Asn) variant of CYP21A2 (Steroid 21-hydroxylase)
H39N (p.His39Asn) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
H39N (p.His39Asn) variant details
- p.His39Asn
- gnomAD 6-32038537-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- CADD 23.20
- PolyPhen-2 0.96
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available