N121S (p.Asn121Ser) variant of PPARGC1A (Q9UBK2)
N121S (p.Asn121Ser) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
N121S (p.Asn121Ser) variant details
- p.Asn121Ser
- gnomAD rs1404591551
- Missense
- Variant Prioritization Score for Impact Estimate 0.341
- REVEL 0.18
- CADD 17.10
- PolyPhen-2 0.24
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available