D130V (p.Asp130Val) variant of PPARGC1A (Q9UBK2)
D130V (p.Asp130Val) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
D130V (p.Asp130Val) variant details
- p.Asp130Val
- cosmic curated COSV53530
- Ensembl rs1577431581
- Missense
- Variant Prioritization Score for Impact Estimate 0.387
- REVEL 0.20
- CADD 26.50
- Most common in the HGDP:YORUBA population (allele frequency 0.024)
- Structural context available