G41C (p.Gly41Cys) variant of DES (Desmin)
G41C (p.Gly41Cys) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1. The record also includes population frequency data, published literature, and structural context.
G41C (p.Gly41Cys) variant details
- p.Gly41Cys
- gnomAD 2-219418583-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.705
- REVEL 0.66
- CADD 25.00
- PolyPhen-2 0.97
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available
- Literature evidence available