F40L (p.Phe40Leu) variant of DES (Desmin)
F40L (p.Phe40Leu) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
F40L (p.Phe40Leu) variant details
- p.Phe40Leu
- gnomAD 2-219418580-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.22
- CADD 22.40
- PolyPhen-2 0.16
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 9.9e-07)
- Structural context available
- Literature evidence available