W23C (p.Trp23Cys) variant of CYP21A2 (Steroid 21-hydroxylase)
W23C (p.Trp23Cys) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
W23C (p.Trp23Cys) variant details
- p.Trp23Cys
- rs72552744
- ClinGen CA3732269
- ClinVar RCV000503594
- ClinVar RCV004999548
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.663
- CADD 24.70
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:ORCADIAN population (allele frequency 0.036)
- Structural context available