R19C (p.Arg19Cys) variant of POLD1 (P28340)
R19C (p.Arg19Cys) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not specified; Colorectal cancer, susceptibility to, 10; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
R19C (p.Arg19Cys) variant details
- p.Arg19Cys
- rs368033860
- ClinGen CA9595598
- cosmic curated COSV10593
- ClinVar RCV000473390
- Conflicting interpretations
- not specified; Colorectal cancer, susceptibility to, 10; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.06
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.01
- ClinVar: Conflicting classifications of pathogenicity (not specified; Colorectal cancer, susceptibility to, 10; not pro)
- EBI: Benign (in dbSNP:rs3218773)
- UniProt: Benign (in dbSNP:rs3218773)
- Most common in the HGDP:BRAHUI population (allele frequency 0.043)
- 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)