N159D (p.Asn159Asp) variant of PPARGC1A (Q9UBK2)
N159D (p.Asn159Asp) in PPARGC1A (Q9UBK2) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
N159D (p.Asn159Asp) variant details
- p.Asn159Asp
- rs372840138
- ESP rs372840138
- ExAC rs372840138
- TOPMed rs372840138
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.08
- CADD 23.50
- PolyPhen-2 0.55
- SIFT 0.21
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available