L36I (p.Leu36Ile) variant of PPARGC1A (Q9UBK2)
L36I (p.Leu36Ile) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
L36I (p.Leu36Ile) variant details
- p.Leu36Ile
- ExAC rs751064415
- gnomAD rs751064415
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.20
- CADD 23.50
- PolyPhen-2 0.97
- SIFT 0.55
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available