G20A (p.Gly20Ala) variant of POLD1 (P28340)
G20A (p.Gly20Ala) 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; not provided; Colorectal cancer, suscep. 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.
G20A (p.Gly20Ala) variant details
- p.Gly20Ala
- rs778329225
- ClinGen CA406970057
- ClinVar RCV000810647
- ClinVar RCV002352408
- Conflicting interpretations
- Hereditary cancer-predisposing syndrome; not provided; Colorectal cancer, suscep
- Missense
- Variant Prioritization Score for Impact Estimate 0.232
- REVEL 0.01
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.00
- CADD 2.76
- PolyPhen-2 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary cancer-predisposing syndrome; not provided; Colorecta)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 1.7e-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)