D16A (p.Asp16Ala) variant of PPARGC1A (Q9UBK2)
D16A (p.Asp16Ala) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D16A (p.Asp16Ala) variant details
- p.Asp16Ala
- Ensembl rs2148852946
- Missense
- Variant Prioritization Score for Impact Estimate 0.284
- REVEL 0.18
- CADD 25.70
- PolyPhen-2 0.44
- SIFT 0.05
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available