A57T (p.Ala57Thr) variant of DSG1 (Desmoglein-1)
A57T (p.Ala57Thr) 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 0.34 / 1. The record also includes population frequency data and structural context.
A57T (p.Ala57Thr) variant details
- p.Ala57Thr
- rs1427235253
- ClinGen CA402127890
- NCI-TCGA Cosmic COSV5713
- ClinVar RCV002954365
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.344
- REVEL 0.14
- MetaLR 0.21
- MetaSVM -0.88
- CADD 24.80
- PolyPhen-2 0.57
- SIFT 0.01
- 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