D22V (p.Asp22Val) variant of POLE (Q07864)
D22V (p.Asp22Val) 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 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
D22V (p.Asp22Val) variant details
- p.Asp22Val
- rs1060500864
- ClinGen CA16614069
- ClinVar RCV003766520
- ClinVar RCV004943863
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.348
- REVEL 0.24
- CADD 23.20
- PolyPhen-2 0.06
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)