P32S (p.Pro32Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
P32S (p.Pro32Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data and structural context.
P32S (p.Pro32Ser) variant details
- p.Pro32Ser
- gnomAD rs1324596767
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.767
- CADD 24.10
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available