D7N (p.Asp7Asn) variant of PPARG (P37231)
D7N (p.Asp7Asn) in PPARG (P37231) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
D7N (p.Asp7Asn) variant details
- p.Asp7Asn
- rs1215582219
- gnomAD 3-12379718-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- AlphaMissense 0.71
- MetaLR 0.39
- MetaSVM -0.34
- CADD 30.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available