K16E (p.Lys16Glu) variant of POLD1 (P28340)
K16E (p.Lys16Glu) 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; not specified. 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.
K16E (p.Lys16Glu) variant details
- p.Lys16Glu
- rs765185645
- ClinGen CA9595594
- ClinVar RCV000590955
- ClinVar RCV000689432
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; Colorectal cancer; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.06
- CADD 22.80
- PolyPhen-2 0.04
- SIFT 0.03
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; Colorectal cancer; not)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YAKUT population (allele frequency 0.02)
- Structural context available
- Cited in: Lynch Syndrome. (PMID 20301390)
- Cited in: Cancer Genetics Risk Assessment and Counseling (PDQ®): Health Professional Version. (PMID 26389258)