V2A (p.Val2Ala) variant of MC4R (Melanocortin receptor 4)
V2A (p.Val2Ala) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
V2A (p.Val2Ala) variant details
- p.Val2Ala
- gnomAD 18-60372345-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.253
- REVEL 0.10
- MetaLR 0.08
- MetaSVM -1.05
- CADD 19.10
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available