P15L (p.Pro15Leu) variant of POLD1 (P28340)
P15L (p.Pro15Leu) 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 0.32 / 1. The record also includes structural context.
P15L (p.Pro15Leu) variant details
- p.Pro15Leu
- rs1601188655
- ClinGen CA406970033
- ClinVar RCV000813620
- Ensembl rs1601188655
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- AlphaMissense 0.12
- MetaLR 0.05
- MetaSVM -1.04
- PolyPhen-2 0.42
- SIFT 0.13
- MutPred 0.20
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available