A957P (p.Ala957Pro) variant of POLG (DNA polymerase subunit gamma-1)
A957P (p.Ala957Pro) 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 Autosomal recessive POLG-related disorders; Mitochondrial DNA depletion syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
A957P (p.Ala957Pro) variant details
- p.Ala957Pro
- rs121918051
- ClinGen CA393752678
- ClinVar RCV000501672
- ClinVar RCV002524270
- Pathogenic/Likely pathogenic
- Autosomal recessive POLG-related disorders; Mitochondrial DNA depletion syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.877
- REVEL 0.98
- AlphaMissense 0.38
- MetaLR 0.97
- MetaSVM 1.11
- CADD 26.70
- PolyPhen-2 1.00
- ClinVar: Pathogenic/Likely pathogenic (Autosomal recessive POLG-related disorders; Mitochondrial DNA de)
- EBI: Pathogenic (in MTDPS4A)
- UniProt: Pathogenic (in MTDPS4A)
- Population evidence available
- Structural context available
- Cited in: Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA. (PMID 15689359)
- Cited in: POLG-Related Disorders. (PMID 20301791)