V8I (p.Val8Ile) variant of DSG1 (Desmoglein-1)
V8I (p.Val8Ile) in DSG1 (Desmoglein-1) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
V8I (p.Val8Ile) variant details
- p.Val8Ile
- rs1331948792
- gnomAD rs1331948792
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.05
- MetaLR 0.09
- MetaSVM -1.04
- CADD 9.01
- PolyPhen-2 0.00
- SIFT 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:FRENCH population (allele frequency 0.019)
- Structural context available