A68A (p.Ala68Ala) variant of MC4R (Melanocortin receptor 4)
A68A (p.Ala68Ala) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A68A (p.Ala68Ala) variant details
- p.Ala68Ala
- rs756756728
- gnomAD 18-60372146-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.0964
- CADD 2.22
- Most common in the East Asian population (allele frequency 0.00023)
- Structural context available
- Literature evidence available