G38R (p.Gly38Arg) variant of MC4R (Melanocortin receptor 4)
G38R (p.Gly38Arg) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
G38R (p.Gly38Arg) variant details
- p.Gly38Arg
- ExAC rs761322927
- gnomAD rs761322927
- Missense
- Variant Prioritization Score for Impact Estimate 0.385
- REVEL 0.19
- MetaLR 0.15
- MetaSVM -0.99
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.15
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available