N34K (p.Asn34Lys) variant of DSC2 (Desmocollin-2)
N34K (p.Asn34Lys) in DSC2 (Desmocollin-2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
N34K (p.Asn34Lys) variant details
- p.Asn34Lys
- ExAC rs759166097
- gnomAD rs759166097
- Missense
- Variant Prioritization Score for Impact Estimate 0.0487
- REVEL 0.03
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available