D44V (p.Asp44Val) variant of CYP21A2 (Steroid 21-hydroxylase)
D44V (p.Asp44Val) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
D44V (p.Asp44Val) variant details
- p.Asp44Val
- ExAC rs764569922
- TOPMed rs764569922
- gnomAD rs764569922
- Missense
- Variant Prioritization Score for Impact Estimate 0.517
- CADD 23.30
- PolyPhen-2 0.59
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available