G8S (p.Gly8Ser) variant of POLD1 (P28340)
G8S (p.Gly8Ser) 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 0.29 / 1. The record also includes structural context.
G8S (p.Gly8Ser) variant details
- p.Gly8Ser
- rs1187406181
- ClinGen CA406969990
- ClinVar RCV003641527
- gnomAD rs1187406181
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.00
- PolyPhen-2 0.00
- SIFT 0.15
- MutPred 0.23
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available