Y78C (p.Tyr78Cys) variant of PPARG (P37231)
Y78C (p.Tyr78Cys) in PPARG (P37231) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data and published literature.
Y78C (p.Tyr78Cys) variant details
- p.Tyr78Cys
- rs1286678629
- gnomAD 3-12379854-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.535
- CADD 24.40
- PolyPhen-2 0.96
- SIFT 0.15
- Most common in the South Asian population (allele frequency 1.2e-05)
- Literature evidence available