M430T (p.Met430Thr) variant of POLG (DNA polymerase subunit gamma-1)
M430T (p.Met430Thr) 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 sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.81 / 1. The record also includes population frequency data, published literature, and structural context.
M430T (p.Met430Thr) variant details
- p.Met430Thr
- rs1567191474
- ClinGen CA10602187
- ClinVar RCV000758436
- Ensembl rs1567191474
- Pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.814
- REVEL 0.95
- CADD 25.90
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)