S34N (p.Ser34Asn) variant of PMS2 (P54278)
S34N (p.Ser34Asn) 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 0.48 / 1. The record also includes population frequency data, published literature, and structural context.
S34N (p.Ser34Asn) variant details
- p.Ser34Asn
- rs370612538
- ClinGen CA366745062
- ClinVar RCV001373699
- ClinVar RCV002368209
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis colorectal neop
- Missense
- Variant Prioritization Score for Impact Estimate 0.477
- REVEL 0.29
- AlphaMissense 0.65
- MetaLR 0.92
- MetaSVM 0.99
- CADD 16.20
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Hereditary nonpolyposis)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- 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)