R42Q (p.Arg42Gln) variant of POLG (DNA polymerase subunit gamma-1)
R42Q (p.Arg42Gln) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of POLG-related disorder; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R42Q (p.Arg42Gln) variant details
- p.Arg42Gln
- rs74382477
- ClinGen CA316606
- NCI-TCGA Cosmic COSV5151
- cosmic curated COSV51519
- Conflicting interpretations
- POLG-related disorder; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.32
- CADD 0.44
- PolyPhen-2 0.00
- SIFT 0.60
- ClinVar: Conflicting classifications of pathogenicity (POLG-related disorder; not provided; Hereditary spastic parapleg)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00053)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: POLG-Related Disorders. (PMID 20301791)