T13A (p.Thr13Ala) variant of POLG (DNA polymerase subunit gamma-1)
T13A (p.Thr13Ala) 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 0.17 / 1. The record also includes population frequency data, published literature, and structural context.
T13A (p.Thr13Ala) variant details
- p.Thr13Ala
- rs999643917
- ClinGen CA274566823
- ClinVar RCV001048223
- ClinVar RCV003223693
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.18
- CADD 11.80
- PolyPhen-2 0.00
- SIFT 0.84
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00016)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)