S36C (p.Ser36Cys) variant of MSH3 (DNA mismatch repair protein Msh3)
S36C (p.Ser36Cys) 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 Hereditary cancer-predisposing syndrome; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
S36C (p.Ser36Cys) variant details
- p.Ser36Cys
- rs1470213668
- ClinGen CA360265323
- ClinVar RCV001009835
- ClinVar RCV001220916
- Uncertain significance
- Hereditary cancer-predisposing syndrome; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.399
- REVEL 0.30
- AlphaMissense 0.14
- MetaLR 0.51
- MetaSVM -0.28
- CADD 22.60
- PolyPhen-2 0.00
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)