S63P (p.Ser63Pro) variant of POLG (DNA polymerase subunit gamma-1)
S63P (p.Ser63Pro) 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 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S63P (p.Ser63Pro) variant details
- p.Ser63Pro
- rs781006710
- ClinGen CA7725164
- ClinVar RCV001362584
- ClinVar RCV001509501
- Uncertain significance
- not provided; Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.265
- REVEL 0.24
- CADD 19.40
- PolyPhen-2 0.28
- SIFT 0.21
- ClinVar: Uncertain significance (not provided; Progressive sclerosing poliodystrophy)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: POLG-Related Disorders. (PMID 20301791)
- Cited in: Mitochondrial DNA Maintenance Defects Overview. (PMID 29517884)