S1104C (p.Ser1104Cys) variant of POLG (DNA polymerase subunit gamma-1)
S1104C (p.Ser1104Cys) in POLG (DNA polymerase subunit gamma-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Progressive sclerosing poliodystrophy. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes published literature and structural context.
S1104C (p.Ser1104Cys) variant details
- p.Ser1104Cys
- rs1010372555
- ClinGen CA393750072
- ClinVar RCV003463336
- UniProt VAR 023687
- Pathogenic/Likely pathogenic
- Progressive sclerosing poliodystrophy
- Missense
- Variant Prioritization Score for Impact Estimate 0.851
- AlphaMissense 0.61
- MetaLR 0.97
- MetaSVM 1.09
- PolyPhen-2 1.00
- SIFT 0.05
- EVE 0.71
- ClinVar: Pathogenic/Likely pathogenic (Progressive sclerosing poliodystrophy)
- EBI: Pathogenic (in PEOB1)
- UniProt: Pathogenic (in PEOB1)
- Structural context available
- Cited in: Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO). (PMID 12707443)
- Cited in: Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. (PMID 11431686)