V50L (p.Val50Leu) variant of MC4R (Melanocortin receptor 4)
V50L (p.Val50Leu) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- gnomAD rs121913557
- Pathogenic
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.16
- AlphaMissense 0.37
- MetaLR 0.26
- MetaSVM -0.59
- CADD 22.50
- PolyPhen-2 1.00
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available