A55S (p.Ala55Ser) variant of DSG1 (Desmoglein-1)
A55S (p.Ala55Ser) 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 0.43 / 1. The record also includes population frequency data and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- rs747673709
- ClinGen CA297689378
- ClinVar RCV003700362
- ExAC rs747673709
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.22
- MetaLR 0.32
- MetaSVM -0.55
- CADD 25.40
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available