S32F (p.Ser32Phe) variant of POLD1 (P28340)
S32F (p.Ser32Phe) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Colorectal cancer, susceptibility to, 10; Hereditary cancer-predis. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
S32F (p.Ser32Phe) variant details
- p.Ser32Phe
- rs959521780
- ClinGen CA406970126
- ClinVar RCV000699121
- ClinVar RCV001799702
- Uncertain significance
- not provided; Colorectal cancer, susceptibility to, 10; Hereditary cancer-predis
- Missense
- Variant Prioritization Score for Impact Estimate 0.364
- REVEL 0.14
- AlphaMissense 0.39
- MetaLR 0.03
- MetaSVM -1.10
- CADD 24.10
- PolyPhen-2 0.99
- ClinVar: Uncertain significance (not provided; Colorectal cancer, susceptibility to, 10; Heredita)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.1e-07)
- 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)