A150V (p.Ala150Val) variant of PPARGC1A (Q9UBK2)
A150V (p.Ala150Val) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
A150V (p.Ala150Val) variant details
- p.Ala150Val
- gnomAD rs1724633641
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.34
- CADD 28.60
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available