P6R (p.Pro6Arg) variant of DSC2 (Desmocollin-2)
P6R (p.Pro6Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
P6R (p.Pro6Arg) variant details
- p.Pro6Arg
- 1000Genomes rs1378826078
- TOPMed rs1378826078
- gnomAD rs1378826078
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.08
- CADD 19.10
- PolyPhen-2 0.47
- SIFT 0.15
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available