T82I (p.Thr82Ile) variant of DSC2 (Desmocollin-2)
T82I (p.Thr82Ile) in DSC2 (Desmocollin-2) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
T82I (p.Thr82Ile) variant details
- p.Thr82Ile
- TOPMed rs1267065182
- gnomAD rs1267065182
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.236
- REVEL 0.14
- CADD 23.50
- PolyPhen-2 0.59
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available