G19S (p.Gly19Ser) variant of DES (Desmin)
G19S (p.Gly19Ser) 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 0.76 / 1. The record also includes population frequency data and structural context.
G19S (p.Gly19Ser) variant details
- p.Gly19Ser
- NCI-TCGA TCGA novel
- TOPMed rs936853024
- gnomAD rs936853024
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.756
- REVEL 0.74
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:MBUTI population (allele frequency 0.083)
- Structural context available