S62A (p.Ser62Ala) variant of PPARGC1A (Q9UBK2)
S62A (p.Ser62Ala) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S62A (p.Ser62Ala) variant details
- p.Ser62Ala
- gnomAD rs1383314837
- Missense
- Variant Prioritization Score for Impact Estimate 0.424
- REVEL 0.28
- CADD 24.20
- PolyPhen-2 0.93
- SIFT 0.06
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available