I14V (p.Ile14Val) variant of DSG1 (Desmoglein-1)
I14V (p.Ile14Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
I14V (p.Ile14Val) variant details
- p.Ile14Val
- rs141269991
- ClinGen CA402127370
- ClinVar RCV002299993
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.119
- REVEL 0.06
- MetaLR 0.12
- MetaSVM -0.97
- CADD 10.50
- PolyPhen-2 0.02
- SIFT 0.14
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available