D16A (p.Asp16Ala) variant of POLE (Q07864)
D16A (p.Asp16Ala) 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 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- rs1333842547
- ClinGen CA387373362
- ClinVar RCV003294095
- ClinVar RCV003656091
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.03
- CADD 19.90
- PolyPhen-2 0.02
- SIFT 0.28
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 0.0002)
- 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)