D25V (p.Asp25Val) variant of POLD1 (P28340)
D25V (p.Asp25Val) 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.
D25V (p.Asp25Val) variant details
- p.Asp25Val
- rs2122195283
- ClinGen CA406970089
- ClinVar RCV002036734
- Ensembl rs2122195283
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.29
- AlphaMissense 0.15
- MetaLR 0.02
- MetaSVM -1.04
- PolyPhen-2 0.01
- SIFT 0.02
- MutPred 0.18
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available