A18T (p.Ala18Thr) variant of POLD1 (P28340)
A18T (p.Ala18Thr) 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 0.31 / 1. The record also includes structural context.
A18T (p.Ala18Thr) variant details
- p.Ala18Thr
- rs1568614680
- ClinGen CA406970044
- ClinVar RCV000701833
- Ensembl rs1568614680
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.311
- AlphaMissense 0.08
- MetaLR 0.04
- MetaSVM -1.06
- PolyPhen-2 0.00
- SIFT 0.40
- MutPred 0.14
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available