G15V (p.Gly15Val) variant of DSP (Desmoplakin)
G15V (p.Gly15Val) in DSP (Desmoplakin) 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 0.55 / 1. The record also includes population frequency data and structural context.
G15V (p.Gly15Val) variant details
- p.Gly15Val
- TOPMed rs1265161836
- gnomAD rs1265161836
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.548
- REVEL 0.53
- MetaLR 0.41
- MetaSVM -0.09
- CADD 26.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available