A28G (p.Ala28Gly) variant of POLD1 (P28340)
A28G (p.Ala28Gly) 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. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data and structural context.
A28G (p.Ala28Gly) variant details
- p.Ala28Gly
- rs765097158
- ClinGen CA406970107
- ClinVar RCV002019798
- ExAC rs765097158
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.0984
- REVEL 0.01
- CADD 0.63
- PolyPhen-2 0.01
- SIFT 0.36
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- Structural context available