V13M (p.Val13Met) variant of POLD1 (P28340)
V13M (p.Val13Met) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Hereditary cancer-predisposing syndrome; not specified; Colorectal cancer, susce. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data, published literature, and structural context.
V13M (p.Val13Met) variant details
- p.Val13Met
- rs760884573
- ClinGen CA9595591
- ClinVar RCV000460088
- ClinVar RCV004596191
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not specified; Colorectal cancer, susce
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.02
- CADD 16.30
- PolyPhen-2 0.06
- SIFT 0.26
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not specified; Colorect)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- 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)