P5S (p.Pro5Ser) variant of MSH2 (DNA mismatch repair protein Msh2)
P5S (p.Pro5Ser) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
P5S (p.Pro5Ser) variant details
- p.Pro5Ser
- rs1573422612
- ClinGen CA346728429
- ClinVar RCV000804405
- ClinVar RCV001011368
- Uncertain significance
- not provided; Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-pr
- Missense
- Variant Prioritization Score for Impact Estimate 0.668
- REVEL 0.59
- ESM-1b 1.00
- AlphaMissense 0.34
- MetaLR 0.63
- MetaSVM 0.38
- CADD 22.80
- ClinVar: Uncertain significance (not provided; Hereditary nonpolyposis colorectal neoplasms; Here)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- 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)