C40W (p.Cys40Trp) variant of MC4R (Melanocortin receptor 4)
C40W (p.Cys40Trp) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
C40W (p.Cys40Trp) variant details
- p.Cys40Trp
- gnomAD 18-60372230-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.355
- REVEL 0.16
- MetaLR 0.14
- MetaSVM -0.93
- CADD 26.60
- PolyPhen-2 0.78
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available