V19A (p.Val19Ala) variant of POLG (DNA polymerase subunit gamma-1)
V19A (p.Val19Ala) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided; Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
V19A (p.Val19Ala) variant details
- p.Val19Ala
- rs770885465
- ClinGen CA7725211
- ClinVar RCV001587805
- ClinVar RCV002592482
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.101
- REVEL 0.09
- CADD 5.18
- PolyPhen-2 0.00
- SIFT 0.76
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00017)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)