R19H (p.Arg19His) variant of POLD1 (P28340)
R19H (p.Arg19His) 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 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
R19H (p.Arg19His) variant details
- p.Arg19His
- rs3218773
- ClinGen CA349025
- ClinVar RCV000204841
- ClinVar RCV000210816
- Benign/Likely benign
- Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-deafness-progero
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.05
- CADD 21.80
- PolyPhen-2 0.00
- SIFT 0.00
- ClinVar: Benign/Likely benign (Colorectal cancer, susceptibility to, 10; Mandibular hypoplasia-)
- EBI: Benign (in dbSNP:rs3218773)
- UniProt: Benign (in dbSNP:rs3218773)
- Most common in the HGDP:LAHU population (allele frequency 0.2)
- Structural context available
- Cited in: American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology… (PMID 24493721)
- Cited in: Endometrial cancer: a review and current management strategies: part I. (PMID 24905773)