L64S (p.Leu64Ser) variant of MC4R (Melanocortin receptor 4)
L64S (p.Leu64Ser) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.76 / 1. The record also includes population frequency data and structural context.
L64S (p.Leu64Ser) variant details
- p.Leu64Ser
- gnomAD rs1457998784
- Missense
- Variant Prioritization Score for Impact Estimate 0.762
- REVEL 0.87
- MetaLR 0.63
- MetaSVM 0.53
- CADD 26.80
- PolyPhen-2 0.57
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available