E49A (p.Glu49Ala) variant of MC4R (Melanocortin receptor 4)
E49A (p.Glu49Ala) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
E49A (p.Glu49Ala) variant details
- p.Glu49Ala
- gnomAD rs1473006541
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.46
- MetaLR 0.19
- MetaSVM -0.78
- CADD 27.40
- PolyPhen-2 0.90
- SIFT 0.00
- Population evidence available
- Structural context available