M1K (p.Met1Lys) variant of POLD1 (P28340)
M1K (p.Met1Lys) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes published literature and structural context.
M1K (p.Met1Lys) variant details
- p.Met1Lys
- rs1057517594
- ClinGen CA16042185
- ClinVar RCV000411507
- ClinVar RCV000570492
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- MetaLR 0.22
- MetaSVM -0.64
- PolyPhen-2 0.12
- SIFT 0.00
- MutPred 0.98
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)