D44N (p.Asp44Asn) variant of CYP21A2 (Steroid 21-hydroxylase)
D44N (p.Asp44Asn) 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.
D44N (p.Asp44Asn) variant details
- p.Asp44Asn
- gnomAD rs1164306344
- Missense
- Variant Prioritization Score for Impact Estimate 0.0814
- CADD 0.41
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available