G105R (p.Gly105Arg) variant of PPARGC1A (Q9UBK2)
G105R (p.Gly105Arg) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.59 / 1. The record also includes population frequency data and structural context.
G105R (p.Gly105Arg) variant details
- p.Gly105Arg
- TOPMed rs1157278042
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.592
- REVEL 0.44
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available