V49F (p.Val49Phe) variant of DSC2 (Desmocollin-2)
V49F (p.Val49Phe) in DSC2 (Desmocollin-2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
V49F (p.Val49Phe) variant details
- p.Val49Phe
- gnomAD rs1484062748
- Uncertain significance
- Cardiovascular phenotype
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.32
- CADD 20.90
- PolyPhen-2 0.93
- SIFT 0.01
- ClinVar: Uncertain significance (Cardiovascular phenotype)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available