W20S (p.Trp20Ser) variant of CYP21A2 (Steroid 21-hydroxylase)
W20S (p.Trp20Ser) in CYP21A2 (Steroid 21-hydroxylase) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
W20S (p.Trp20Ser) variant details
- p.Trp20Ser
- gnomAD 6-32038481-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.669
- CADD 25.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available