V52F (p.Val52Phe) variant of DSC2 (Desmocollin-2)
V52F (p.Val52Phe) 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 0.65 / 1. The record also includes population frequency data and structural context.
V52F (p.Val52Phe) variant details
- p.Val52Phe
- ExAC rs757588306
- TOPMed rs757588306
- gnomAD rs757588306
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.654
- REVEL 0.51
- CADD 34.00
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.6e-05)
- Structural context available