A889P (p.Ala889Pro) variant of POLG (DNA polymerase subunit gamma-1)
A889P (p.Ala889Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.93 / 1. The record also includes published literature and structural context.
A889P (p.Ala889Pro) variant details
- p.Ala889Pro
- rs763393580
- ClinGen CA393753749
- ClinVar RCV000855760
- ExAC rs763393580
- Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.926
- AlphaMissense 1.00
- MetaLR 0.98
- MetaSVM 1.07
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.74
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)