V43M (p.Val43Met) variant of PPARGC1A (Q9UBK2)
V43M (p.Val43Met) 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.
V43M (p.Val43Met) variant details
- p.Val43Met
- Ensembl rs1469800816
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.35
- CADD 26.10
- PolyPhen-2 0.99
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available