T8K (p.Thr8Lys) variant of MSH2 (DNA mismatch repair protein Msh2)
T8K (p.Thr8Lys) 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; Hereditary cancer-predisposing syn. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data, published literature, and structural context.
T8K (p.Thr8Lys) variant details
- p.Thr8Lys
- rs17217716
- ClinGen CA346728466
- ClinVar RCV001038223
- ClinVar RCV002454276
- Uncertain significance
- Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-predisposing syn
- Missense
- Variant Prioritization Score for Impact Estimate 0.498
- REVEL 0.41
- ESM-1b 1.00
- AlphaMissense 0.24
- MetaLR 0.41
- MetaSVM -0.46
- CADD 20.80
- ClinVar: Uncertain significance (Hereditary nonpolyposis colorectal neoplasms; Hereditary cancer-)
- EBI: Benign (in dbSNP:rs17217716)
- UniProt: Benign (in dbSNP:rs17217716)
- Population evidence available
- 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)