A138S (p.Ala138Ser) variant of PPARGC1A (Q9UBK2)
A138S (p.Ala138Ser) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
A138S (p.Ala138Ser) variant details
- p.Ala138Ser
- ExAC rs769377888
- TOPMed rs769377888
- gnomAD rs769377888
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.12
- CADD 22.80
- PolyPhen-2 0.98
- SIFT 0.29
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 0.5)
- Structural context available