G21D (p.Gly21Asp) variant of POLD1 (P28340)
G21D (p.Gly21Asp) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1. 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.
G21D (p.Gly21Asp) variant details
- p.Gly21Asp
- rs771371900
- ClinGen CA9595601
- ClinVar RCV001317793
- ClinVar RCV004034434
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.138
- REVEL 0.04
- CADD 12.20
- PolyPhen-2 0.00
- SIFT 0.21
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance (in dbSNP:rs9282831)
- UniProt: Uncertain significance (in dbSNP:rs9282831)
- Most common in the South Asian population (allele frequency 3.6e-05)
- 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)