G6D (p.Gly6Asp) variant of POLE (Q07864)
G6D (p.Gly6Asp) in POLE (Q07864) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
G6D (p.Gly6Asp) variant details
- p.Gly6Asp
- rs772972882
- ClinGen CA6894472
- ClinVar RCV001548150
- ClinVar RCV005260097
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.201
- REVEL 0.02
- AlphaMissense 0.11
- MetaLR 0.01
- MetaSVM -0.92
- CADD 7.72
- PolyPhen-2 0.02
- EBI: Likely benign
- UniProt: Likely benign
- 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)