A16D (p.Ala16Asp) variant of CYP21A2 (Steroid 21-hydroxylase)
A16D (p.Ala16Asp) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in AH3. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
A16D (p.Ala16Asp) variant details
- p.Ala16Asp
- TOPMed rs1207942890
- gnomAD rs1207942890
- Uncertain significance
- in AH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.259
- CADD 14.80
- PolyPhen-2 0.05
- SIFT 0.03
- EBI: uncertain significance (in AH3)
- UniProt: Uncertain significance (in AH3)
- Most common in the Non-Finnish European population (allele frequency 5.5e-06)
- Structural context available