A16V (p.Ala16Val) variant of CYP21A2 (Steroid 21-hydroxylase)
A16V (p.Ala16Val) 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 0.22 / 1. The record also includes population frequency data and structural context.
A16V (p.Ala16Val) variant details
- p.Ala16Val
- TOPMed rs1207942890
- gnomAD rs1207942890
- Uncertain significance
- in AH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- CADD 9.34
- PolyPhen-2 0.02
- SIFT 0.19
- EBI: uncertain significance (in AH3)
- UniProt: Uncertain significance (in AH3)
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available