S12P (p.Ser12Pro) variant of MC4R (Melanocortin receptor 4)
S12P (p.Ser12Pro) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S12P (p.Ser12Pro) variant details
- p.Ser12Pro
- gnomAD rs1207320659
- Missense
- Variant Prioritization Score for Impact Estimate 0.165
- REVEL 0.06
- MetaLR 0.03
- MetaSVM -1.06
- CADD 20.20
- PolyPhen-2 0.00
- SIFT 0.32
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available