W23C (p.Trp23Cys) variant of POLD1 (P28340)
W23C (p.Trp23Cys) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
W23C (p.Trp23Cys) variant details
- p.Trp23Cys
- rs2038473555
- ClinGen CA406970075
- ClinVar RCV002022310
- ClinVar RCV004651888
- Uncertain significance
- Hereditary cancer-predisposing syndrome; Colorectal cancer, susceptibility to, 1
- Missense
- Variant Prioritization Score for Impact Estimate 0.336
- REVEL 0.13
- AlphaMissense 0.30
- MetaLR 0.14
- MetaSVM -1.01
- CADD 23.00
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (Hereditary cancer-predisposing syndrome; Colorectal cancer, susc)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available
- Cited in: A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic… (PMID 25394175)