F34L (p.Phe34Leu) variant of POLD1 (P28340)
F34L (p.Phe34Leu) 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; Colorectal cancer, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
F34L (p.Phe34Leu) variant details
- p.Phe34Leu
- rs754716741
- ClinGen CA406970141
- ClinVar RCV001043709
- ClinVar RCV002379515
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.142
- REVEL 0.17
- CADD 7.25
- PolyPhen-2 0.05
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Benign
- UniProt: Benign
- Most common in the Non-Finnish European population (allele frequency 1.5e-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)