A1105P (p.Ala1105Pro) variant of POLG (DNA polymerase subunit gamma-1)
A1105P (p.Ala1105Pro) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Mitochondrial disease. 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.
A1105P (p.Ala1105Pro) variant details
- p.Ala1105Pro
- rs753410045
- ClinGen CA316764
- ClinVar RCV000188617
- ClinVar RCV001753589
- Likely pathogenic
- Mitochondrial disease
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.93
- CADD 28.20
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Mitochondrial disease)
- EBI: Likely pathogenic (in PEOB1)
- UniProt: Likely pathogenic (in PEOB1)
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Cited in: Primary Mitochondrial Disorders Overview. (PMID 20301403)
- Cited in: Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society. (PMID 25503498)