N7S (p.Asn7Ser) variant of PPARGC1A (Q9UBK2)
N7S (p.Asn7Ser) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
N7S (p.Asn7Ser) variant details
- p.Asn7Ser
- ExAC rs772131746
- TOPMed rs772131746
- gnomAD rs772131746
- Missense
- Variant Prioritization Score for Impact Estimate 0.239
- REVEL 0.15
- CADD 22.70
- PolyPhen-2 0.01
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 8.9e-05)
- Structural context available