A14P (p.Ala14Pro) variant of CYP21A2 (Steroid 21-hydroxylase)
A14P (p.Ala14Pro) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data and structural context.
A14P (p.Ala14Pro) variant details
- p.Ala14Pro
- 1000Genomes rs764636694
- ExAC rs764636694
- TOPMed rs764636694
- gnomAD rs764636694
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.519
- CADD 23.70
- PolyPhen-2 0.71
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available