W3C (p.Trp3Cys) variant of DSG1 (Desmoglein-1)
W3C (p.Trp3Cys) in DSG1 (Desmoglein-1) 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 0.53 / 1. The record also includes population frequency data and structural context.
W3C (p.Trp3Cys) variant details
- p.Trp3Cys
- rs762299574
- ClinGen CA8925720
- ClinVar RCV002003276
- ExAC rs762299574
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.53
- REVEL 0.39
- MetaLR 0.38
- MetaSVM -0.48
- CADD 28.00
- PolyPhen-2 0.95
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available