A111V (p.Ala111Val) variant of PPARGC1A (Q9UBK2)
A111V (p.Ala111Val) 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 0.53 / 1. The record also includes population frequency data and structural context.
A111V (p.Ala111Val) variant details
- p.Ala111Val
- rs779660669
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99337
- 1000Genomes rs779660669
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.531
- REVEL 0.35
- CADD 24.80
- PolyPhen-2 0.99
- SIFT 0.09
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available