A68S (p.Ala68Ser) variant of MC4R (Melanocortin receptor 4)
A68S (p.Ala68Ser) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
A68S (p.Ala68Ser) variant details
- p.Ala68Ser
- gnomAD rs1360504571
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- REVEL 0.32
- MetaLR 0.07
- MetaSVM -1.20
- CADD 25.00
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available