P48L (p.Pro48Leu) variant of MC4R (Melanocortin receptor 4)
P48L (p.Pro48Leu) 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 provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data and structural context.
P48L (p.Pro48Leu) variant details
- p.Pro48Leu
- ExAC rs776520178
- gnomAD rs776520178
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.347
- REVEL 0.11
- MetaLR 0.09
- MetaSVM -1.09
- CADD 22.80
- PolyPhen-2 0.06
- SIFT 0.24
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available