V46I (p.Val46Ile) variant of MC4R (Melanocortin receptor 4)
V46I (p.Val46Ile) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
V46I (p.Val46Ile) variant details
- p.Val46Ile
- gnomAD rs1163674339
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.09
- MetaLR 0.04
- MetaSVM -1.05
- CADD 16.20
- PolyPhen-2 0.01
- SIFT 1.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available