A70A (p.Ala70Ala) variant of MC4R (Melanocortin receptor 4)
A70A (p.Ala70Ala) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A70A (p.Ala70Ala) variant details
- p.Ala70Ala
- rs763822900
- gnomAD 18-60372140-G-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.292
- CADD 9.83
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available
- Literature evidence available