R18H (p.Arg18His) variant of MC4R (Melanocortin receptor 4)
R18H (p.Arg18His) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
R18H (p.Arg18His) variant details
- p.Arg18His
- rs780671601
- ExAC rs780671601
- TOPMed rs780671601
- gnomAD rs780671601
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.23
- MetaLR 0.02
- MetaSVM -0.98
- CADD 14.20
- PolyPhen-2 0.00
- SIFT 0.60
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available