A138V (p.Ala138Val) variant of PPARGC1A (Q9UBK2)
A138V (p.Ala138Val) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
A138V (p.Ala138Val) variant details
- p.Ala138Val
- TOPMed rs1725002240
- Missense
- Variant Prioritization Score for Impact Estimate 0.411
- REVEL 0.20
- CADD 26.30
- PolyPhen-2 0.98
- SIFT 0.26
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available