A70G (p.Ala70Gly) variant of MC4R (Melanocortin receptor 4)
A70G (p.Ala70Gly) 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 0.36 / 1. The record also includes population frequency data and structural context.
A70G (p.Ala70Gly) variant details
- p.Ala70Gly
- TOPMed rs1198759731
- gnomAD rs1198759731
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.356
- REVEL 0.14
- MetaLR 0.02
- MetaSVM -1.11
- CADD 22.90
- PolyPhen-2 0.41
- SIFT 0.01
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available