S32Y (p.Ser32Tyr) variant of POLD1 (P28340)
S32Y (p.Ser32Tyr) 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; Hereditary cancer-predisposing syndrom. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes published literature and structural context.
S32Y (p.Ser32Tyr) variant details
- p.Ser32Tyr
- rs959521780
- ClinGen CA309597856
- ClinVar RCV000806489
- ClinVar RCV002381777
- Uncertain significance
- Colorectal cancer, susceptibility to, 10; Hereditary cancer-predisposing syndrom
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- AlphaMissense 0.39
- MetaLR 0.03
- MetaSVM -1.10
- PolyPhen-2 0.99
- SIFT 0.03
- MutPred 0.24
- ClinVar: Uncertain significance (Colorectal cancer, susceptibility to, 10; Hereditary cancer-pred)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)