A862T (p.Ala862Thr) variant of POLG (DNA polymerase subunit gamma-1)
A862T (p.Ala862Thr) 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; not provided; Mitochondrial DNA depletion syndrome 4b. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
A862T (p.Ala862Thr) variant details
- p.Ala862Thr
- rs778429780
- ClinGen CA7724420
- ClinVar RCV000497335
- ClinVar RCV000758455
- Pathogenic/Likely pathogenic
- POLG-related disorder; not provided; Mitochondrial DNA depletion syndrome 4b
- Missense
- Variant Prioritization Score for Impact Estimate 0.894
- REVEL 0.96
- CADD 28.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (POLG-related disorder; not provided; Mitochondrial DNA depletion)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: Primary Mitochondrial Disorders Overview. (PMID 20301403)
- Cited in: MELAS. (PMID 20301411)