G5V (p.Gly5Val) variant of DSP (Desmoplakin)
G5V (p.Gly5Val) 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 0.54 / 1. The record also includes population frequency data and structural context.
G5V (p.Gly5Val) variant details
- p.Gly5Val
- gnomAD rs1757989474
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.54
- REVEL 0.43
- MetaLR 0.41
- MetaSVM -0.07
- CADD 28.90
- 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 3.8e-05)
- Structural context available