T166N (p.Thr166Asn) variant of PPARGC1A (Q9UBK2)
T166N (p.Thr166Asn) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
T166N (p.Thr166Asn) variant details
- p.Thr166Asn
- gnomAD rs1269539071
- Missense
- Variant Prioritization Score for Impact Estimate 0.409
- REVEL 0.23
- CADD 23.20
- PolyPhen-2 0.92
- SIFT 0.09
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available