H39Q (p.His39Gln) variant of CYP21A2 (Steroid 21-hydroxylase)
H39Q (p.His39Gln) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
H39Q (p.His39Gln) variant details
- p.His39Gln
- gnomAD 6-32038539-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.376
- CADD 20.20
- PolyPhen-2 0.98
- SIFT 0.07
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available