C40Y (p.Cys40Tyr) variant of MC4R (Melanocortin receptor 4)
C40Y (p.Cys40Tyr) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data and structural context.
C40Y (p.Cys40Tyr) variant details
- p.Cys40Tyr
- Ensembl rs2143967443
- Missense
- Variant Prioritization Score for Impact Estimate 0.441
- REVEL 0.29
- MetaLR 0.12
- MetaSVM -0.98
- CADD 22.40
- SIFT 0.02
- Most common in the HGDP:RUSSIAN population (allele frequency 0.02)
- Structural context available