A32T (p.Ala32Thr) variant of POLG (DNA polymerase subunit gamma-1)
A32T (p.Ala32Thr) 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 Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
A32T (p.Ala32Thr) variant details
- p.Ala32Thr
- rs748448370
- ClinGen CA7725208
- cosmic curated COSV10876
- ClinVar RCV003859699
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.234
- REVEL 0.19
- CADD 12.50
- PolyPhen-2 0.02
- SIFT 0.35
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.5e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)