G23V (p.Gly23Val) variant of DES (Desmin)
G23V (p.Gly23Val) in DES (Desmin) 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 0.24 / 1. The record also includes population frequency data and structural context.
G23V (p.Gly23Val) variant details
- p.Gly23Val
- ExAC rs3903257
- gnomAD rs3903257
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.244
- REVEL 0.16
- CADD 16.90
- PolyPhen-2 0.14
- SIFT 0.35
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available