I70V (p.Ile70Val) variant of DSG1 (Desmoglein-1)
I70V (p.Ile70Val) 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 0.35 / 1. The record also includes population frequency data and structural context.
I70V (p.Ile70Val) variant details
- p.Ile70Val
- rs145119037
- ClinGen CA8925778
- ClinVar RCV002791336
- ESP rs145119037
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.18
- MetaLR 0.18
- MetaSVM -0.91
- CADD 25.10
- PolyPhen-2 0.92
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available