R30P (p.Arg30Pro) variant of POLD1 (P28340)
R30P (p.Arg30Pro) 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.
R30P (p.Arg30Pro) variant details
- p.Arg30Pro
- rs765969481
- ClinGen CA406970115
- ClinVar RCV001235797
- ExAC rs765969481
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.295
- AlphaMissense 0.09
- MetaLR 0.01
- MetaSVM -0.91
- PolyPhen-2 0.04
- SIFT 0.38
- MutPred 0.20
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Likely benign (in dbSNP:rs3218772)
- UniProt: Likely benign (in dbSNP:rs3218772)
- Structural context available