L966R (p.Leu966Arg) variant of POLG (DNA polymerase subunit gamma-1)
L966R (p.Leu966Arg) 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 external ophthalmoplegia with mitochondrial D. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data, published literature, and structural context.
L966R (p.Leu966Arg) variant details
- p.Leu966Arg
- rs142347031
- ClinGen CA7724330
- ClinVar RCV000413284
- ClinVar RCV000821077
- Pathogenic/Likely pathogenic
- POLG-related disorder; Progressive external ophthalmoplegia with mitochondrial D
- Missense
- Variant Prioritization Score for Impact Estimate 0.847
- REVEL 0.98
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; Progressive external ophthalmoplegia with)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Most common in the 1KG:GBR population (allele frequency 0.011)
- Structural context available
- Cited in: Alpers syndrome with mutations in POLG: clinical and investigative features. (PMID 22000311)
- Cited in: POLG-Related Disorders. (PMID 20301791)