P48S (p.Pro48Ser) variant of MC4R (Melanocortin receptor 4)
P48S (p.Pro48Ser) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
P48S (p.Pro48Ser) variant details
- p.Pro48Ser
- gnomAD rs1367004987
- Missense
- Variant Prioritization Score for Impact Estimate 0.383
- REVEL 0.20
- MetaLR 0.08
- MetaSVM -1.10
- CADD 20.40
- PolyPhen-2 0.01
- SIFT 0.43
- Most common in the REMAINING population (allele frequency 3.3e-05)
- Structural context available