Y35H (p.Tyr35His) variant of MC4R (Melanocortin receptor 4)
Y35H (p.Tyr35His) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of MC4R-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
Y35H (p.Tyr35His) variant details
- p.Tyr35His
- TOPMed rs1181535625
- gnomAD rs1181535625
- Uncertain significance
- MC4R-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.168
- REVEL 0.01
- MetaLR 0.03
- MetaSVM -1.02
- CADD 17.20
- SIFT 0.62
- ClinVar: Uncertain significance (MC4R-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available