A16S (p.Ala16Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
A16S (p.Ala16Ser) 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 0.06 / 1. The record also includes population frequency data and structural context.
A16S (p.Ala16Ser) variant details
- p.Ala16Ser
- 1000Genomes rs71563398
- ExAC rs71563398
- gnomAD rs71563398
- Uncertain significance
- in AH3
- Missense
- Variant Prioritization Score for Impact Estimate 0.0616
- CADD 0.45
- PolyPhen-2 0.00
- SIFT 0.35
- EBI: uncertain significance (in AH3)
- UniProt: Uncertain significance (in AH3)
- Population evidence available
- Structural context available