A70V (p.Ala70Val) variant of MC4R (Melanocortin receptor 4)
A70V (p.Ala70Val) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The record also includes variant effect predictions and structural context.
A70V (p.Ala70Val) variant details
- p.Ala70Val
- TOPMed rs1198759731
- gnomAD rs1198759731
- Uncertain significance
- not specified
- Missense
- MetaLR 0.01
- MetaSVM -0.88
- SIFT 1.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available