L31F (p.Leu31Phe) variant of MC4R (Melanocortin receptor 4)
L31F (p.Leu31Phe) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
L31F (p.Leu31Phe) variant details
- p.Leu31Phe
- 1000Genomes rs545718295
- ExAC rs545718295
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.08
- CADD 16.10
- SIFT 0.69
- Most common in the 1KG:ACB population (allele frequency 0.0054)
- Structural context available