N71S (p.Asn71Ser) variant of PPARGC1A (Q9UBK2)
N71S (p.Asn71Ser) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
N71S (p.Asn71Ser) variant details
- p.Asn71Ser
- TOPMed rs1337237971
- gnomAD rs1337237971
- Missense
- Variant Prioritization Score for Impact Estimate 0.282
- REVEL 0.07
- CADD 19.30
- PolyPhen-2 0.02
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 4.4e-05)
- Structural context available