Q9R (p.Gln9Arg) variant of DES (Desmin)
Q9R (p.Gln9Arg) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
Q9R (p.Gln9Arg) variant details
- p.Gln9Arg
- gnomAD 2-219418488-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.42
- CADD 22.90
- PolyPhen-2 0.26
- SIFT 0.45
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available