V17A (p.Val17Ala) variant of DSG1 (Desmoglein-1)
V17A (p.Val17Ala) 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 0.38 / 1. The record also includes population frequency data and structural context.
V17A (p.Val17Ala) variant details
- p.Val17Ala
- rs2511042423
- ClinGen CA402127401
- ClinVar RCV003877083
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.27
- MetaLR 0.32
- MetaSVM -0.39
- CADD 26.80
- PolyPhen-2 0.78
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available