G21R (p.Gly21Arg) variant of POLD1 (P28340)
G21R (p.Gly21Arg) 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 0.32 / 1. The record also includes structural context.
G21R (p.Gly21Arg) variant details
- p.Gly21Arg
- rs9282831
- ClinGen CA406970060
- ClinVar RCV002029208
- 1000Genomes rs9282831
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.317
- AlphaMissense 0.09
- MetaLR 0.03
- MetaSVM -1.03
- PolyPhen-2 0.88
- SIFT 0.05
- MutPred 0.09
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance (in dbSNP:rs9282831)
- UniProt: Uncertain significance (in dbSNP:rs9282831)
- Structural context available