D97N (p.Asp97Asn) variant of PPARGC1A (Q9UBK2)
D97N (p.Asp97Asn) 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 0.52 / 1. The record also includes population frequency data and structural context.
D97N (p.Asp97Asn) variant details
- p.Asp97Asn
- NCI-TCGA Cosmic COSV5352
- cosmic curated COSV53525
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.516
- REVEL 0.31
- CADD 26.30
- PolyPhen-2 0.99
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available