P33S (p.Pro33Ser) variant of DES (Desmin)
P33S (p.Pro33Ser) in DES (Desmin) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes structural context.
P33S (p.Pro33Ser) variant details
- p.Pro33Ser
- rs886042942
- ClinGen CA10604899
- ClinVar RCV000355468
- Ensembl rs886042942
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- AlphaMissense 0.07
- MetaLR 0.33
- MetaSVM -0.57
- PolyPhen-2 0.02
- SIFT 0.65
- MutPred 0.43
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available