N44S (p.Asn44Ser) variant of PPARGC1A (Q9UBK2)
N44S (p.Asn44Ser) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
N44S (p.Asn44Ser) variant details
- p.Asn44Ser
- TOPMed rs994022617
- gnomAD rs994022617
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.12
- CADD 22.40
- PolyPhen-2 0.96
- SIFT 1.00
- Most common in the Latino/Admixed American population (allele frequency 6.7e-05)
- Structural context available