S118N (p.Ser118Asn) variant of PMS2 (P54278)
S118N (p.Ser118Asn) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data, published literature, and structural context.
S118N (p.Ser118Asn) variant details
- p.Ser118Asn
- rs1394474494
- ClinGen CA366744522
- ClinVar RCV000629959
- ClinVar RCV001358610
- Pathogenic/Likely pathogenic
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.74
- REVEL 0.64
- AlphaMissense 0.98
- MetaLR 0.76
- MetaSVM 0.80
- CADD 33.00
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.8e-05)
- Structural context available
- Cited in: ASCO 2006 update of recommendations for the use of tumor markers in gastrointestinal cancer. (PMID 17060676)
- Cited in: National Academy of Clinical Biochemistry laboratory medicine practice guidelines for use of tumor markers in… (PMID 19042984)