T13S (p.Thr13Ser) variant of POLG (DNA polymerase subunit gamma-1)
T13S (p.Thr13Ser) 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 Inborn genetic diseases; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
T13S (p.Thr13Ser) variant details
- p.Thr13Ser
- rs1199924512
- ClinGen CA10602286
- ClinVar RCV000712808
- ClinVar RCV001052244
- Uncertain significance
- Inborn genetic diseases; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- CADD 8.26
- PolyPhen-2 0.01
- SIFT 0.77
- ClinVar: Uncertain significance (Inborn genetic diseases; not provided; Hereditary spastic parapl)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BERGAMOITALIAN population (allele frequency 0.045)
- Structural context available
- Cited in: Uncomplicated (Pure) Hereditary Spastic Paraplegia Overview. (PMID 20301682)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)