G41V (p.Gly41Val) variant of DES (Desmin)
G41V (p.Gly41Val) in DES (Desmin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
G41V (p.Gly41Val) variant details
- p.Gly41Val
- NCI-TCGA Cosmic COSV6466
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.66
- REVEL 0.59
- CADD 23.90
- PolyPhen-2 0.87
- SIFT 0.41
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available