M1V (p.Met1Val) variant of POLD1 (P28340)
M1V (p.Met1Val) 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 0.35 / 1. The record also includes structural context.
M1V (p.Met1Val) variant details
- p.Met1Val
- rs2038467552
- ClinGen CA406969950
- ClinVar RCV001048613
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- MetaLR 0.27
- MetaSVM -0.56
- PolyPhen-2 0.03
- SIFT 0.00
- MutPred 0.99
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available