G21V (p.Gly21Val) variant of POLD1 (P28340)
G21V (p.Gly21Val) 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 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
G21V (p.Gly21Val) variant details
- p.Gly21Val
- rs771371900
- ClinGen CA406970062
- ClinVar RCV000645848
- ClinVar RCV003303048
- Uncertain significance
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.14
- REVEL 0.02
- CADD 16.00
- PolyPhen-2 0.06
- SIFT 0.08
- 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 Non-Finnish European population (allele frequency 1.8e-06)
- 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)