S28R (p.Ser28Arg) variant of MC4R (Melanocortin receptor 4)
S28R (p.Ser28Arg) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
S28R (p.Ser28Arg) variant details
- p.Ser28Arg
- gnomAD rs1427649826
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.114
- REVEL 0.08
- MetaLR 0.09
- MetaSVM -1.00
- CADD 6.24
- PolyPhen-2 0.01
- SIFT 0.05
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available