R49H (p.Arg49His) variant of DSG1 (Desmoglein-1)
R49H (p.Arg49His) 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 0.61 / 1. The record also includes population frequency data and structural context.
R49H (p.Arg49His) variant details
- p.Arg49His
- NCI-TCGA Cosmic COSV5713
- Ensembl rs2144087833
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.51
- AlphaMissense 0.85
- MetaLR 0.48
- MetaSVM -0.00
- CADD 29.30
- PolyPhen-2 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available