N34T (p.Asn34Thr) variant of DSC2 (Desmocollin-2)
N34T (p.Asn34Thr) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiomyopathy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
N34T (p.Asn34Thr) variant details
- p.Asn34Thr
- TOPMed rs1278118453
- gnomAD rs1278118453
- Uncertain significance
- Cardiomyopathy
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.02
- CADD 10.00
- PolyPhen-2 0.01
- SIFT 0.10
- ClinVar: Uncertain significance (Cardiomyopathy)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available