R19L (p.Arg19Leu) variant of POLD1 (P28340)
R19L (p.Arg19Leu) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R19L (p.Arg19Leu) variant details
- p.Arg19Leu
- rs3218773
- ClinGen CA406970053
- ClinVar RCV001043786
- ClinVar RCV005712328
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.07
- CADD 21.80
- PolyPhen-2 0.02
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Benign (in dbSNP:rs3218773)
- UniProt: Benign (in dbSNP:rs3218773)
- Most common in the African/African-American population (allele frequency 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)