K4T (p.Lys4Thr) variant of POLD1 (P28340)
K4T (p.Lys4Thr) 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 0.36 / 1. The record also includes structural context.
K4T (p.Lys4Thr) variant details
- p.Lys4Thr
- rs2122193607
- ClinGen CA406969974
- ClinVar RCV001974218
- Ensembl rs2122193607
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.358
- AlphaMissense 0.54
- MetaLR 0.10
- MetaSVM -1.02
- PolyPhen-2 1.00
- SIFT 0.04
- MutPred 0.43
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available