Y35C (p.Tyr35Cys) variant of MC4R (Melanocortin receptor 4)
Y35C (p.Tyr35Cys) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
Y35C (p.Tyr35Cys) variant details
- p.Tyr35Cys
- 1000Genomes rs193213449
- ExAC rs193213449
- TOPMed rs193213449
- gnomAD rs193213449
- Missense
- Variant Prioritization Score for Impact Estimate 0.211
- REVEL 0.09
- MetaLR 0.08
- MetaSVM -0.96
- CADD 22.60
- PolyPhen-2 0.26
- SIFT 0.18
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Structural context available