D104H (p.Asp104His) variant of PPARGC1A (Q9UBK2)
D104H (p.Asp104His) 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.
D104H (p.Asp104His) variant details
- p.Asp104His
- ExAC rs772000021
- gnomAD rs772000021
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- REVEL 0.35
- CADD 26.00
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available