I66V (p.Ile66Val) variant of MC4R (Melanocortin receptor 4)
I66V (p.Ile66Val) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
I66V (p.Ile66Val) variant details
- p.Ile66Val
- gnomAD 18-60372154-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.20
- MetaLR 0.26
- MetaSVM -0.67
- CADD 17.50
- PolyPhen-2 0.17
- SIFT 0.38
- Population evidence available
- Structural context available
- Literature evidence available