V52L (p.Val52Leu) variant of PPARG (P37231)
V52L (p.Val52Leu) in PPARG (P37231) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and published literature.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- rs2049575083
- gnomAD 3-12379886-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.497
- CADD 1.78
- Most common in the South Asian population (allele frequency 0.00021)
- Literature evidence available