G39R (p.Gly39Arg) variant of MC4R (Melanocortin receptor 4)
G39R (p.Gly39Arg) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data and structural context.
G39R (p.Gly39Arg) variant details
- p.Gly39Arg
- TOPMed rs1915364068
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.27
- MetaLR 0.16
- MetaSVM -0.96
- CADD 22.10
- PolyPhen-2 0.05
- SIFT 0.12
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available