V13L (p.Val13Leu) variant of POLD1 (P28340)
V13L (p.Val13Leu) 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. 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.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- rs760884573
- ClinGen CA406970018
- ClinVar RCV001360082
- ExAC rs760884573
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.03
- CADD 12.80
- PolyPhen-2 0.00
- SIFT 0.78
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 2.3e-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)