M919V (p.Met919Val) variant of POLG (DNA polymerase subunit gamma-1)
M919V (p.Met919Val) 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; Sensory ataxic neuropathy, dysarthria, an. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes published literature and structural context.
M919V (p.Met919Val) variant details
- p.Met919Val
- rs1299487054
- ClinVar RCV004574886
- Likely pathogenic
- Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy, dysarthria, an
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- AlphaMissense 0.80
- MetaLR 0.92
- MetaSVM 1.07
- PolyPhen-2 0.68
- SIFT 0.00
- EVE 0.75
- ClinVar: Likely pathogenic (Progressive sclerosing poliodystrophy; Sensory ataxic neuropathy)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)