G41S (p.Gly41Ser) variant of DES (Desmin)
G41S (p.Gly41Ser) in DES (Desmin) is a missense change. 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.
G41S (p.Gly41Ser) variant details
- p.Gly41Ser
- ExAC rs745773759
- gnomAD rs745773759
- Missense
- Variant Prioritization Score for Impact Estimate 0.549
- REVEL 0.43
- CADD 21.60
- PolyPhen-2 0.05
- SIFT 0.72
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available