V48M (p.Val48Met) variant of PPARG (P37231)
V48M (p.Val48Met) in PPARG (P37231) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data.
V48M (p.Val48Met) variant details
- p.Val48Met
- rs141797536
- ESP rs141797536
- ExAC rs141797536
- TOPMed rs141797536
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.304
- AlphaMissense 0.10
- MetaLR 0.06
- MetaSVM -1.03
- PolyPhen-2 0.00
- SIFT 0.28
- MutPred 0.33
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available