V52L (p.Val52Leu) variant of MC4R (Melanocortin receptor 4)
V52L (p.Val52Leu) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
V52L (p.Val52Leu) variant details
- p.Val52Leu
- gnomAD 18-60372196-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.255
- REVEL 0.07
- MetaLR 0.03
- MetaSVM -1.05
- CADD 16.40
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available
- Literature evidence available