D2Y (p.Asp2Tyr) variant of POLD1 (P28340)
D2Y (p.Asp2Tyr) 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 0.26 / 1. The record also includes population frequency data and structural context.
D2Y (p.Asp2Tyr) variant details
- p.Asp2Tyr
- rs2038467819
- ClinGen CA406969959
- ClinVar RCV002851677
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.08
- AlphaMissense 0.37
- MetaLR 0.07
- MetaSVM -1.04
- CADD 23.30
- PolyPhen-2 0.72
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available