P31Q (p.Pro31Gln) variant of POLD1 (P28340)
P31Q (p.Pro31Gln) 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 population frequency data and structural context.
P31Q (p.Pro31Gln) variant details
- p.Pro31Gln
- rs2038475705
- ClinGen CA406970119
- ClinVar RCV002038940
- Ensembl rs2038475705
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.349
- REVEL 0.13
- CADD 23.30
- PolyPhen-2 0.80
- SIFT 0.04
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available