F51C (p.Phe51Cys) variant of MC4R (Melanocortin receptor 4)
F51C (p.Phe51Cys) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
F51C (p.Phe51Cys) variant details
- p.Phe51Cys
- gnomAD 18-60372198-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.598
- REVEL 0.66
- MetaLR 0.15
- MetaSVM -0.86
- CADD 29.90
- PolyPhen-2 0.56
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available