A15V (p.Ala15Val) variant of POLE (Q07864)
A15V (p.Ala15Val) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.08 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs1565986587
- ClinGen CA387373372
- ClinVar RCV003321715
- ClinVar RCV003540648
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0761
- REVEL 0.02
- CADD 9.64
- PolyPhen-2 0.00
- SIFT 0.34
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00013)
- 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)