D890A (p.Asp890Ala) variant of POLG (DNA polymerase subunit gamma-1)
D890A (p.Asp890Ala) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal. The available variant effect predictions contribute to a CATVariant prioritization score of 0.92 / 1. The record also includes published literature and structural context.
D890A (p.Asp890Ala) variant details
- p.Asp890Ala
- rs1567186779
- ClinGen CA10602238
- ClinVar RCV000758456
- Ensembl rs1567186779
- Pathogenic
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal
- Missense
- Variant Prioritization Score for Impact Estimate 0.916
- AlphaMissense 1.00
- MetaLR 1.00
- MetaSVM 0.90
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.73
- ClinVar: Pathogenic (Progressive external ophthalmoplegia with mitochondrial DNA dele)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)
- Cited in: POLG-Related Disorders. (PMID 20301791)