S18T (p.Ser18Thr) variant of MSH6 (DNA mismatch repair protein Msh6)
S18T (p.Ser18Thr) in MSH6 (DNA mismatch repair protein Msh6) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
S18T (p.Ser18Thr) variant details
- p.Ser18Thr
- rs765459817
- ClinGen CA073114
- ClinVar RCV002712107
- ExAC rs765459817
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.135
- REVEL 0.12
- MetaLR 0.29
- MetaSVM -0.87
- CADD 0.29
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 1.6e-05)
- Structural context available