T38A (p.Thr38Ala) variant of DSG1 (Desmoglein-1)
T38A (p.Thr38Ala) in DSG1 (Desmoglein-1) is a missense change. 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.
T38A (p.Thr38Ala) variant details
- p.Thr38Ala
- TOPMed rs1353460018
- gnomAD rs1353460018
- Missense
- Variant Prioritization Score for Impact Estimate 0.351
- REVEL 0.19
- MetaLR 0.23
- MetaSVM -0.75
- CADD 23.20
- PolyPhen-2 0.25
- SIFT 0.09
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available