A71T (p.Ala71Thr) variant of DSG1 (Desmoglein-1)
A71T (p.Ala71Thr) in DSG1 (Desmoglein-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and structural context.
A71T (p.Ala71Thr) variant details
- p.Ala71Thr
- rs1348931149
- NCI-TCGA Cosmic COSV5713
- gnomAD rs1348931149
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.534
- REVEL 0.42
- MetaLR 0.31
- MetaSVM -0.42
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available