I96T (p.Ile96Thr) variant of DSC2 (Desmocollin-2)
I96T (p.Ile96Thr) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar 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 0.72 / 1. The record also includes population frequency data and structural context.
I96T (p.Ile96Thr) variant details
- p.Ile96Thr
- TOPMed rs1320040048
- gnomAD rs1320040048
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.715
- REVEL 0.78
- CADD 26.00
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available