V29I (p.Val29Ile) variant of DSG1 (Desmoglein-1)
V29I (p.Val29Ile) 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 0.30 / 1. The record also includes population frequency data and structural context.
V29I (p.Val29Ile) variant details
- p.Val29Ile
- rs759853035
- ClinGen CA402127491
- ClinVar RCV002302912
- ExAC rs759853035
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- REVEL 0.13
- MetaLR 0.25
- MetaSVM -0.70
- CADD 24.80
- PolyPhen-2 0.23
- SIFT 0.03
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available