R18S (p.Arg18Ser) variant of MC4R (Melanocortin receptor 4)
R18S (p.Arg18Ser) 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 and structural context.
R18S (p.Arg18Ser) variant details
- p.Arg18Ser
- ExAC rs749768113
- gnomAD rs749768113
- Missense
- Variant Prioritization Score for Impact Estimate 0.291
- REVEL 0.13
- MetaLR 0.04
- MetaSVM -1.06
- CADD 20.50
- PolyPhen-2 0.00
- SIFT 0.58
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available