Q43R (p.Gln43Arg) variant of POLG (DNA polymerase subunit gamma-1)
Q43R (p.Gln43Arg) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as benign in the context of POLG-related disorder; Inborn genetic diseases; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
Q43R (p.Gln43Arg) variant details
- p.Gln43Arg
- rs28567406
- ClinGen CA288980
- cosmic curated COSV51520
- ClinVar RCV000118010
- Benign
- POLG-related disorder; Inborn genetic diseases; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.202
- REVEL 0.30
- CADD 0.00
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Benign (POLG-related disorder; Inborn genetic diseases; not specified)
- EBI: Benign
- UniProt: Benign
- Most common in the HGDP:SAN population (allele frequency 0.7)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)