V13A (p.Val13Ala) variant of PPARGC1A (Q9UBK2)
V13A (p.Val13Ala) in PPARGC1A (Q9UBK2) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- TOPMed rs1717570585
- Missense
- Variant Prioritization Score for Impact Estimate 0.368
- REVEL 0.24
- CADD 25.20
- PolyPhen-2 0.96
- SIFT 0.17
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available