L44V (p.Leu44Val) variant of MC4R (Melanocortin receptor 4)
L44V (p.Leu44Val) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
L44V (p.Leu44Val) variant details
- p.Leu44Val
- gnomAD 18-60372220-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.293
- REVEL 0.10
- MetaLR 0.05
- MetaSVM -1.08
- CADD 18.00
- PolyPhen-2 0.02
- SIFT 1.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available