V30I (p.Val30Ile) variant of POLG (DNA polymerase subunit gamma-1)
V30I (p.Val30Ile) 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 specified; not provided; Progressive external ophthalmoplegia with mitochond. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V30I (p.Val30Ile) variant details
- p.Val30Ile
- rs1321405180
- ClinGen CA393774878
- ClinVar RCV000995422
- ClinVar RCV002290510
- Uncertain significance
- not specified; not provided; Progressive external ophthalmoplegia with mitochond
- Missense
- Variant Prioritization Score for Impact Estimate 0.256
- REVEL 0.14
- CADD 18.60
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Uncertain significance (not specified; not provided; Progressive external ophthalmoplegi)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Single Large-Scale Mitochondrial DNA Deletion Syndromes. (PMID 20301382)
- Cited in: POLG-Related Disorders. (PMID 20301791)