R7L (p.Arg7Leu) variant of MC4R (Melanocortin receptor 4)
R7L (p.Arg7Leu) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
R7L (p.Arg7Leu) variant details
- p.Arg7Leu
- NCI-TCGA Cosmic COSV1002
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.161
- REVEL 0.16
- MetaLR 0.10
- MetaSVM -0.97
- CADD 8.34
- PolyPhen-2 0.00
- SIFT 0.40
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available