W51L (p.Trp51Leu) variant of DSG1 (Desmoglein-1)
W51L (p.Trp51Leu) in DSG1 (Desmoglein-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
W51L (p.Trp51Leu) variant details
- p.Trp51Leu
- NCI-TCGA Cosmic COSV9993
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.51
- MetaLR 0.58
- MetaSVM 0.37
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available