I52F (p.Ile52Phe) variant of DSG1 (Desmoglein-1)
I52F (p.Ile52Phe) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.48 / 1. The record also includes structural context.
I52F (p.Ile52Phe) variant details
- p.Ile52Phe
- rs2144087836
- ClinGen CA402127857
- ClinVar RCV001943258
- Ensembl rs2144087836
- Uncertain significance
- Inborn genetic diseases; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.481
- AlphaMissense 0.91
- MetaLR 0.38
- MetaSVM -0.21
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.56
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available