S46C (p.Ser46Cys) variant of PPARG (P37231)
S46C (p.Ser46Cys) in PPARG (P37231) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
S46C (p.Ser46Cys) variant details
- p.Ser46Cys
- gnomAD 3-12379842-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.78
- CADD 25.20
- PolyPhen-2 1.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Literature evidence available