S39P (p.Ser39Pro) variant of MSH3 (DNA mismatch repair protein Msh3)
S39P (p.Ser39Pro) in MSH3 (DNA mismatch repair protein Msh3) 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 0.42 / 1. The record also includes structural context.
S39P (p.Ser39Pro) variant details
- p.Ser39Pro
- rs1580538013
- ClinGen CA360265345
- ClinVar RCV000807580
- TOPMed rs1580538013
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- AlphaMissense 0.06
- MetaLR 0.37
- MetaSVM -0.69
- PolyPhen-2 0.46
- SIFT 0.09
- MutPred 0.10
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available