L64F (p.Leu64Phe) variant of MC4R (Melanocortin receptor 4)
L64F (p.Leu64Phe) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
L64F (p.Leu64Phe) variant details
- p.Leu64Phe
- gnomAD 18-60372158-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.575
- REVEL 0.70
- MetaLR 0.44
- MetaSVM -0.12
- CADD 22.60
- PolyPhen-2 0.43
- SIFT 0.01
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available