S162N (p.Ser162Asn) variant of PPARGC1A (Q9UBK2)
S162N (p.Ser162Asn) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
S162N (p.Ser162Asn) variant details
- p.Ser162Asn
- TOPMed rs943455390
- gnomAD rs943455390
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.14
- CADD 19.50
- PolyPhen-2 0.29
- SIFT 0.47
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available