F40C (p.Phe40Cys) variant of DES (Desmin)
F40C (p.Phe40Cys) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data, published literature, and structural context.
F40C (p.Phe40Cys) variant details
- p.Phe40Cys
- gnomAD 2-219418581-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.489
- REVEL 0.51
- CADD 24.30
- PolyPhen-2 0.67
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available