P5A (p.Pro5Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
P5A (p.Pro5Ala) in MSH2 (DNA mismatch repair protein Msh2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, published literature, and structural context.
P5A (p.Pro5Ala) variant details
- p.Pro5Ala
- rs1573422612
- ClinGen CA346728427
- ClinVar RCV001923634
- ClinVar RCV005370039
- Conflicting interpretations
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.625
- REVEL 0.52
- ESM-1b 1.00
- AlphaMissense 0.17
- MetaLR 0.59
- MetaSVM 0.26
- CADD 23.50
- ClinVar: Conflicting classifications of pathogenicity (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- 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)