P14H (p.Pro14His) variant of POLD1 (P28340)
P14H (p.Pro14His) 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 0.36 / 1. The record also includes population frequency data and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- rs2122194403
- ClinGen CA406970027
- ClinVar RCV001932296
- Ensembl rs2122194403
- Uncertain significance
- Colorectal cancer, susceptibility to, 10
- Missense
- Variant Prioritization Score for Impact Estimate 0.362
- REVEL 0.08
- CADD 23.60
- PolyPhen-2 0.54
- SIFT 0.02
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available