F51L (p.Phe51Leu) variant of MC4R (Melanocortin receptor 4)
F51L (p.Phe51Leu) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data and structural context.
F51L (p.Phe51Leu) variant details
- p.Phe51Leu
- ESP rs147000967
- TOPMed rs147000967
- gnomAD rs147000967
- Likely pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.617
- REVEL 0.69
- MetaLR 0.20
- MetaSVM -0.71
- CADD 28.50
- PolyPhen-2 0.91
- SIFT 0.00
- ClinVar: Likely pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20)
- UniProt: Likely pathogenic
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available