S118T (p.Ser118Thr) variant of PMS2 (P54278)
S118T (p.Ser118Thr) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Lynch syndrome 4; Hereditary nonpolyposis colorectal neoplasms; Hereditary cance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes published literature and structural context.
S118T (p.Ser118Thr) variant details
- p.Ser118Thr
- rs1394474494
- ClinGen CA366744523
- ClinVar RCV003759413
- ClinVar RCV005871263
- Likely pathogenic
- Lynch syndrome 4; Hereditary nonpolyposis colorectal neoplasms; Hereditary cance
- Missense
- Variant Prioritization Score for Impact Estimate 0.802
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.80
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.66
- ClinVar: Likely pathogenic (Lynch syndrome 4; Hereditary nonpolyposis colorectal neoplasms;)
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)
- Cited in: Lynch Syndrome. (PMID 20301390)