S16C (p.Ser16Cys) variant of PPARG (P37231)
S16C (p.Ser16Cys) in PPARG (P37231) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
S16C (p.Ser16Cys) variant details
- p.Ser16Cys
- rs2048489977
- gnomAD 3-12351635-GATTCC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.768
- CADD 24.10
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available
- Literature evidence available