F34I (p.Phe34Ile) variant of POLD1 (P28340)
F34I (p.Phe34Ile) 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 0.19 / 1. The record also includes population frequency data and structural context.
F34I (p.Phe34Ile) variant details
- p.Phe34Ile
- rs2038476429
- ClinGen CA406970135
- ClinVar RCV001038467
- Ensembl rs2038476429
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.19
- REVEL 0.09
- CADD 22.40
- PolyPhen-2 0.13
- SIFT 0.01
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available