P11S (p.Pro11Ser) variant of POLD1 (P28340)
P11S (p.Pro11Ser) 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 0.08 / 1. The record also includes population frequency data and structural context.
P11S (p.Pro11Ser) variant details
- p.Pro11Ser
- rs2122194108
- ClinGen CA406970010
- ClinVar RCV001990096
- Ensembl rs2122194108
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.0795
- REVEL 0.08
- CADD 2.05
- PolyPhen-2 0.00
- SIFT 0.59
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available