K4Q (p.Lys4Gln) variant of POLD1 (P28340)
K4Q (p.Lys4Gln) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes published literature and structural context.
K4Q (p.Lys4Gln) variant details
- p.Lys4Gln
- rs2038468125
- ClinGen CA406969971
- ClinVar RCV001052280
- ClinVar RCV005702396
- Uncertain significance
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.365
- AlphaMissense 0.30
- MetaLR 0.11
- MetaSVM -0.97
- PolyPhen-2 1.00
- SIFT 0.01
- MutPred 0.31
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- 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)