L38Q (p.Leu38Gln) variant of POLD1 (P28340)
L38Q (p.Leu38Gln) 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 0.30 / 1. The record also includes published literature and structural context.
L38Q (p.Leu38Gln) variant details
- p.Leu38Gln
- rs1601189190
- ClinGen CA406970166
- ClinVar RCV000815284
- ClinVar RCV002453852
- Uncertain significance
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.299
- AlphaMissense 0.78
- MetaLR 0.05
- MetaSVM -1.14
- PolyPhen-2 1.00
- SIFT 0.00
- MutPred 0.29
- 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)