D102Y (p.Asp102Tyr) variant of PPARGC1A (Q9UBK2)
D102Y (p.Asp102Tyr) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
D102Y (p.Asp102Tyr) variant details
- p.Asp102Tyr
- ExAC rs773174815
- gnomAD rs773174815
- Missense
- Variant Prioritization Score for Impact Estimate 0.608
- REVEL 0.47
- CADD 26.40
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00019)
- Structural context available