G21C (p.Gly21Cys) variant of POLD1 (P28340)
G21C (p.Gly21Cys) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
G21C (p.Gly21Cys) variant details
- p.Gly21Cys
- rs9282831
- ClinGen CA9595600
- cosmic curated COSV10593
- ClinVar RCV000546801
- Uncertain significance
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.09
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.03
- CADD 17.40
- PolyPhen-2 0.88
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- EBI: Variant of uncertain significance (in dbSNP:rs9282831)
- UniProt: Uncertain significance (in dbSNP:rs9282831)
- Most common in the 1KG:CEU population (allele frequency 0.0042)
- 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)