I66T (p.Ile66Thr) variant of MC4R (Melanocortin receptor 4)
I66T (p.Ile66Thr) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
I66T (p.Ile66Thr) variant details
- p.Ile66Thr
- gnomAD 18-60372153-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.752
- REVEL 0.82
- MetaLR 0.71
- MetaSVM 0.66
- CADD 26.50
- PolyPhen-2 0.93
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available