S8N (p.Ser8Asn) variant of PMS2 (P54278)
S8N (p.Ser8Asn) in PMS2 (P54278) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
S8N (p.Ser8Asn) variant details
- p.Ser8Asn
- rs1352544158
- ClinGen CA366745218
- ClinVar RCV000699782
- ClinVar RCV001187935
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.527
- REVEL 0.34
- AlphaMissense 0.08
- MetaLR 0.54
- MetaSVM -0.04
- CADD 34.00
- PolyPhen-2 0.84
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- 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)