T914P (p.Thr914Pro) variant of POLG (DNA polymerase subunit gamma-1)
T914P (p.Thr914Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of POLG-related disorder; Progressive sclerosing poliodystrophy; Mitochondrial DNA. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data, published literature, and structural context.
T914P (p.Thr914Pro) variant details
- p.Thr914Pro
- rs139590686
- ClinGen CA7724353
- ClinVar RCV000306622
- ClinVar RCV000321917
- Pathogenic/Likely pathogenic
- POLG-related disorder; Progressive sclerosing poliodystrophy; Mitochondrial DNA
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.98
- CADD 26.90
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Progressive sclerosing poliodystrophy; Mi)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the Non-Finnish European population (allele frequency 0.00015)
- Structural context available
- Cited in: Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene. (PMID 16621917)
- Cited in: Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a… (PMID 16639411)