H24N (p.His24Asn) variant of MC4R (Melanocortin receptor 4)
H24N (p.His24Asn) 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 0.22 / 1. The record also includes population frequency data and structural context.
H24N (p.His24Asn) variant details
- p.His24Asn
- TOPMed rs905335629
- gnomAD rs905335629
- Uncertain significance
- MC4R-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.224
- REVEL 0.08
- MetaLR 0.08
- MetaSVM -1.07
- CADD 16.90
- PolyPhen-2 0.00
- SIFT 0.54
- ClinVar: Uncertain significance (MC4R-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 7.2e-05)
- Structural context available