R49L (p.Arg49Leu) variant of DSG1 (Desmoglein-1)
R49L (p.Arg49Leu) 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 0.54 / 1. The record also includes structural context.
R49L (p.Arg49Leu) variant details
- p.Arg49Leu
- rs2144087833
- ClinGen CA402127826
- ClinVar RCV002300306
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- AlphaMissense 0.85
- MetaLR 0.48
- MetaSVM -0.00
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.61
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available