V52V (p.Val52Val) variant of MC4R (Melanocortin receptor 4)
V52V (p.Val52Val) in MC4R (Melanocortin receptor 4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V52V (p.Val52Val) variant details
- p.Val52Val
- gnomAD 18-60372194-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.356
- CADD 9.88
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available