P22S (p.Pro22Ser) variant of DES (Desmin)
P22S (p.Pro22Ser) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
P22S (p.Pro22Ser) variant details
- p.Pro22Ser
- gnomAD 2-219418526-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.144
- REVEL 0.07
- CADD 11.40
- PolyPhen-2 0.00
- SIFT 0.14
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available
- Literature evidence available