G34R (p.Gly34Arg) variant of MC4R (Melanocortin receptor 4)
G34R (p.Gly34Arg) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
G34R (p.Gly34Arg) variant details
- p.Gly34Arg
- gnomAD rs1483418974
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.20
- MetaLR 0.06
- MetaSVM -1.08
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.53
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available