D44E (p.Asp44Glu) variant of CYP21A2 (Steroid 21-hydroxylase)
D44E (p.Asp44Glu) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
D44E (p.Asp44Glu) variant details
- p.Asp44Glu
- cosmic curated COSV64487
- Missense
- Variant Prioritization Score for Impact Estimate 0.271
- CADD 14.30
- PolyPhen-2 0.17
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available