L64I (p.Leu64Ile) variant of MC4R (Melanocortin receptor 4)
L64I (p.Leu64Ile) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
L64I (p.Leu64Ile) variant details
- p.Leu64Ile
- ExAC rs766896933
- TOPMed rs766896933
- gnomAD rs766896933
- Missense
- Variant Prioritization Score for Impact Estimate 0.632
- REVEL 0.68
- MetaLR 0.62
- MetaSVM 0.24
- CADD 24.20
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the East Asian population (allele frequency 0.00019)
- Structural context available