S12P (p.Ser12Pro) variant of DES (Desmin)
S12P (p.Ser12Pro) in DES (Desmin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- ExAC rs768075842
- TOPMed rs768075842
- gnomAD rs768075842
- Missense
- Variant Prioritization Score for Impact Estimate 0.778
- REVEL 0.86
- CADD 31.00
- PolyPhen-2 0.99
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 3.8e-05)
- Structural context available