V43A (p.Val43Ala) variant of PPARGC1A (Q9UBK2)
V43A (p.Val43Ala) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
V43A (p.Val43Ala) variant details
- p.Val43Ala
- ExAC rs777438884
- gnomAD rs777438884
- Missense
- Variant Prioritization Score for Impact Estimate 0.445
- REVEL 0.31
- CADD 23.50
- PolyPhen-2 0.96
- SIFT 0.59
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available