D37G (p.Asp37Gly) variant of MC4R (Melanocortin receptor 4)
D37G (p.Asp37Gly) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
D37G (p.Asp37Gly) variant details
- p.Asp37Gly
- ESP rs13447325
- ExAC rs13447325
- TOPMed rs13447325
- gnomAD rs13447325
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -0.98
- CADD 20.40
- SIFT 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the HGDP:PALESTINIAN population (allele frequency 0.013)
- Structural context available