A467D (p.Ala467Asp) variant of POLG (DNA polymerase subunit gamma-1)
A467D (p.Ala467Asp) 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 not specified; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
A467D (p.Ala467Asp) variant details
- p.Ala467Asp
- rs2509255963
- ClinGen CA393761699
- ClinVar RCV002949674
- ClinVar RCV004765610
- Conflicting interpretations
- not specified; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.868
- REVEL 0.94
- CADD 26.80
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not specified; Progressive sclerosing poliodystrophy)
- EBI: Likely pathogenic (in PEOB1, SANDO, SCAE and MTDPS4A)
- UniProt: Likely pathogenic (in PEOB1, SANDO, SCAE and MTDPS4A)
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)