G24D (p.Gly24Asp) variant of POLE (Q07864)
G24D (p.Gly24Asp) 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 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
G24D (p.Gly24Asp) variant details
- p.Gly24Asp
- rs2043162480
- ClinGen CA387370671
- ClinVar RCV003656434
- ClinVar RCV004030788
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.14
- CADD 17.20
- PolyPhen-2 0.00
- SIFT 0.08
- 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)