D44G (p.Asp44Gly) variant of CYP21A2 (Steroid 21-hydroxylase)
D44G (p.Asp44Gly) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
D44G (p.Asp44Gly) variant details
- p.Asp44Gly
- ExAC rs764569922
- TOPMed rs764569922
- gnomAD rs764569922
- Missense
- Variant Prioritization Score for Impact Estimate 0.453
- CADD 17.60
- PolyPhen-2 0.01
- SIFT 0.15
- Most common in the South Asian population (allele frequency 0.00042)
- Structural context available