A27D (p.Ala27Asp) variant of MC4R (Melanocortin receptor 4)
A27D (p.Ala27Asp) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
A27D (p.Ala27Asp) variant details
- p.Ala27Asp
- TOPMed rs1167880919
- gnomAD rs1167880919
- Missense
- Variant Prioritization Score for Impact Estimate 0.196
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.06
- CADD 20.70
- PolyPhen-2 0.00
- SIFT 0.41
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available