T599P (p.Thr599Pro) variant of POLG (DNA polymerase subunit gamma-1)
T599P (p.Thr599Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data, published literature, and structural context.
T599P (p.Thr599Pro) variant details
- p.Thr599Pro
- rs1064796458
- ClinGen CA16620023
- ClinVar RCV000486915
- ClinVar RCV000633550
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.803
- REVEL 0.91
- CADD 28.00
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)