D102V (p.Asp102Val) variant of PPARGC1A (Q9UBK2)
D102V (p.Asp102Val) 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 0.56 / 1. The record also includes population frequency data and structural context.
D102V (p.Asp102Val) variant details
- p.Asp102Val
- rs1419054523
- gnomAD rs1419054523
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.556
- REVEL 0.48
- CADD 27.50
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available