R30W (p.Arg30Trp) variant of POLD1 (P28340)
R30W (p.Arg30Trp) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign/likely benign in the context of Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progero. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
R30W (p.Arg30Trp) variant details
- p.Arg30Trp
- rs3218772
- ClinGen CA348473
- cosmic curated COSV70955
- ClinVar RCV000204228
- Benign/Likely benign
- Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progero
- Missense
- Variant Prioritization Score for Impact Estimate 0.173
- REVEL 0.03
- CADD 19.20
- PolyPhen-2 0.18
- SIFT 0.04
- ClinVar: Benign/Likely benign (Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-)
- EBI: Benign (in dbSNP:rs3218772)
- UniProt: Benign (in dbSNP:rs3218772)
- Most common in the HGDP:DRUZE population (allele frequency 0.057)
- Structural context available
- Cited in: Primary structure of the catalytic subunit of human DNA polymerase delta and chromosomal location of the gene. (PMID 1722322)
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)