G34C (p.Gly34Cys) variant of MC4R (Melanocortin receptor 4)
G34C (p.Gly34Cys) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
G34C (p.Gly34Cys) variant details
- p.Gly34Cys
- gnomAD rs1483418974
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.14
- MetaLR 0.08
- MetaSVM -1.04
- CADD 23.10
- PolyPhen-2 0.35
- SIFT 0.03
- Most common in the Finnish in Finland (FIN) population (allele frequency 1.9e-05)
- Structural context available