I63L (p.Ile63Leu) variant of MC4R (Melanocortin receptor 4)
I63L (p.Ile63Leu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data, published literature, and structural context.
I63L (p.Ile63Leu) variant details
- p.Ile63Leu
- gnomAD 18-60372163-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.18
- REVEL 0.08
- MetaLR 0.01
- MetaSVM -0.94
- CADD 22.50
- PolyPhen-2 0.51
- SIFT 0.14
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available