V52M (p.Val52Met) variant of MC4R (Melanocortin receptor 4)
V52M (p.Val52Met) 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, published literature, and structural context.
V52M (p.Val52Met) variant details
- p.Val52Met
- gnomAD 18-60372196-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.319
- REVEL 0.15
- MetaLR 0.10
- MetaSVM -1.03
- CADD 24.60
- PolyPhen-2 0.46
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available