D44H (p.Asp44His) variant of CYP21A2 (Steroid 21-hydroxylase)
D44H (p.Asp44His) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data and structural context.
D44H (p.Asp44His) variant details
- p.Asp44His
- ExAC rs762507423
- TOPMed rs762507423
- gnomAD rs762507423
- Missense
- Variant Prioritization Score for Impact Estimate 0.0776
- CADD 2.20
- PolyPhen-2 0.05
- SIFT 0.38
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available