V52A (p.Val52Ala) variant of MC4R (Melanocortin receptor 4)
V52A (p.Val52Ala) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes variant effect predictions and structural context.
V52A (p.Val52Ala) variant details
- p.Val52Ala
- NCI-TCGA TCGA novel
- TOPMed rs1453861734
- gnomAD rs1453861734
- Variant assessed as somatic; moderate impact.
- Missense
- MetaLR 0.08
- MetaSVM -1.03
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available