S28I (p.Ser28Ile) variant of MC4R (Melanocortin receptor 4)
S28I (p.Ser28Ile) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
S28I (p.Ser28Ile) variant details
- p.Ser28Ile
- TOPMed rs1230316014
- gnomAD rs1230316014
- Missense
- Variant Prioritization Score for Impact Estimate 0.21
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.00
- CADD 17.30
- PolyPhen-2 0.01
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available