D37A (p.Asp37Ala) variant of PPARGC1A (Q9UBK2)
D37A (p.Asp37Ala) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and structural context.
D37A (p.Asp37Ala) variant details
- p.Asp37Ala
- TOPMed rs1315540191
- gnomAD rs1315540191
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.53
- CADD 24.90
- PolyPhen-2 0.44
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available