S6C (p.Ser6Cys) variant of PMS2 (P54278)
S6C (p.Ser6Cys) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes published literature and structural context.
S6C (p.Ser6Cys) variant details
- p.Ser6Cys
- rs1786254768
- ClinGen CA366745229
- ClinVar RCV001319773
- ClinVar RCV003365328
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.495
- AlphaMissense 0.06
- MetaLR 0.58
- MetaSVM -0.44
- PolyPhen-2 0.89
- SIFT 0.04
- MutPred 0.18
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)