P11S (p.Pro11Ser) variant of PMS2 (P54278)
P11S (p.Pro11Ser) 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 0.44 / 1. The record also includes published literature and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs1554306608
- ClinGen CA366745189
- ClinVar RCV001896371
- ClinVar RCV006406999
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.443
- AlphaMissense 0.08
- MetaLR 0.43
- MetaSVM -0.66
- PolyPhen-2 0.01
- SIFT 0.85
- MutPred 0.30
- 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)