D16V (p.Asp16Val) variant of POLE (Q07864)
D16V (p.Asp16Val) 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 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- rs1333842547
- ClinGen CA387373359
- ClinVar RCV002334496
- ClinVar RCV003655233
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.06
- CADD 21.60
- PolyPhen-2 0.04
- SIFT 0.10
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.4e-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)