P22T (p.Pro22Thr) variant of POLG (DNA polymerase subunit gamma-1)
P22T (p.Pro22Thr) 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 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
P22T (p.Pro22Thr) variant details
- p.Pro22Thr
- rs568058975
- ClinGen CA393775018
- ClinVar RCV003627980
- Uncertain significance
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.12
- CADD 8.39
- PolyPhen-2 0.00
- SIFT 0.64
- ClinVar: Uncertain significance (Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3.1e-05)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)