I80V (p.Ile80Val) variant of PPARGC1A (Q9UBK2)
I80V (p.Ile80Val) 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 0.31 / 1. The record also includes population frequency data and structural context.
I80V (p.Ile80Val) variant details
- p.Ile80Val
- rs757606579
- NCI-TCGA Cosmic COSV9933
- cosmic curated COSV99337
- ExAC rs757606579
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.17
- CADD 23.80
- PolyPhen-2 0.08
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available