M1T (p.Met1Thr) variant of POLD1 (P28340)
M1T (p.Met1Thr) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Colorectal cancer, susceptibility to, 10; POLD1-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs1057517594
- ClinGen CA406969952
- ClinVar RCV001017954
- ClinVar RCV001302452
- Uncertain significance
- not provided; Colorectal cancer, susceptibility to, 10; POLD1-related disorder
- 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 (not provided; Colorectal cancer, susceptibility to, 10; POLD1-re)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)