W3C (p.Trp3Cys) variant of HSD3B2 (P26439)
W3C (p.Trp3Cys) in HSD3B2 (P26439) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
W3C (p.Trp3Cys) variant details
- p.Trp3Cys
- NCI-TCGA Cosmic COSV1010
- cosmic curated COSV10102
- ExAC rs765335418
- gnomAD rs765335418
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.55
- REVEL 0.50
- AlphaMissense 0.59
- MetaLR 0.43
- MetaSVM -0.23
- CADD 24.10
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the South Asian population (allele frequency 9.3e-05)
- Structural context available