G20W (p.Gly20Trp) variant of DES (Desmin)
G20W (p.Gly20Trp) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
G20W (p.Gly20Trp) variant details
- p.Gly20Trp
- gnomAD 2-219418520-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.64
- REVEL 0.61
- CADD 28.30
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 3.4e-06)
- Structural context available
- Literature evidence available