N67S (p.Asn67Ser) variant of PPARGC1A (Q9UBK2)
N67S (p.Asn67Ser) 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.
N67S (p.Asn67Ser) variant details
- p.Asn67Ser
- gnomAD rs1716580039
- Missense
- Variant Prioritization Score for Impact Estimate 0.285
- REVEL 0.09
- CADD 16.00
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available