I39V (p.Ile39Val) variant of DSG1 (Desmoglein-1)
I39V (p.Ile39Val) 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 0.15 / 1. The record also includes population frequency data and structural context.
I39V (p.Ile39Val) variant details
- p.Ile39Val
- rs775732796
- ClinGen CA8925765
- ClinVar RCV002797393
- ExAC rs775732796
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.01
- CADD 11.70
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available