P696A (p.Pro696Ala) variant of MSH2 (DNA mismatch repair protein Msh2)
P696A (p.Pro696Ala) 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 nonpolyposis colorectal neoplasms; Lynch syndrome; Hereditary cancer. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data, published literature, and structural context.
P696A (p.Pro696Ala) variant details
- p.Pro696Ala
- rs546201898
- ClinGen CA46702586
- ClinVar RCV000758654
- ClinVar RCV000774580
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; Hereditary cancer
- Missense
- Variant Prioritization Score for Impact Estimate 0.859
- REVEL 0.90
- ESM-1b 1.00
- AlphaMissense 0.54
- CADD 25.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Lynch syndrome; He)
- EBI: Variant of uncertain significance (in LYNCH1)
- UniProt: Uncertain significance (in LYNCH1)
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- 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)
- Cited in: Practice parameters for the identification and testing of patients at risk for dominantly inherited colorectal… (PMID 11598466)