A31V (p.Ala31Val) variant of POLE (Q07864)
A31V (p.Ala31Val) in POLE (Q07864) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Hereditary cancer-predisposing syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
A31V (p.Ala31Val) variant details
- p.Ala31Val
- rs2043161643
- ClinGen CA387370535
- ClinVar RCV003549464
- ClinVar RCV005467977
- Uncertain significance
- not provided; Hereditary cancer-predisposing syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.216
- REVEL 0.16
- CADD 14.30
- PolyPhen-2 0.00
- SIFT 0.14
- ClinVar: Uncertain significance (not provided; Hereditary cancer-predisposing syndrome)
- EBI: Variant of uncertain significance (in dbSNP:rs34047482)
- UniProt: Uncertain significance (in dbSNP:rs34047482)
- Most common in the Non-Finnish European population (allele frequency 9e-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)