S6N (p.Ser6Asn) variant of PMS2 (P54278)
S6N (p.Ser6Asn) 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.
S6N (p.Ser6Asn) variant details
- p.Ser6Asn
- rs587781112
- ClinGen CA366745228
- ClinVar RCV000564183
- ClinVar RCV002527998
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.438
- AlphaMissense 0.08
- MetaLR 0.47
- MetaSVM -0.62
- PolyPhen-2 0.09
- SIFT 0.02
- MutPred 0.20
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign
- UniProt: Benign
- 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)