P5T (p.Pro5Thr) variant of MSH2 (DNA mismatch repair protein Msh2)
P5T (p.Pro5Thr) 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 Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data, published literature, and structural context.
P5T (p.Pro5Thr) variant details
- p.Pro5Thr
- rs1573422612
- ClinGen CA346728430
- ClinVar RCV002389234
- Ensembl rs1573422612
- Uncertain significance
- Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.74
- ESM-1b 1.00
- AlphaMissense 0.38
- MetaLR 0.76
- MetaSVM 0.65
- CADD 25.30
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- 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)