R6P (p.Arg6Pro) variant of POLD1 (P28340)
R6P (p.Arg6Pro) in POLD1 (P28340) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; Hereditary cancer-predisposing syndrome; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
R6P (p.Arg6Pro) variant details
- p.Arg6Pro
- rs778275831
- ClinGen CA9595584
- ClinVar RCV000226679
- ClinVar RCV000759220
- Conflicting interpretations
- not provided; Hereditary cancer-predisposing syndrome; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.08
- CADD 15.40
- PolyPhen-2 0.00
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided; Hereditary cancer-predisposing syndrome; not speci)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 5.9e-05)
- 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)