R7H (p.Arg7His) variant of MC4R (Melanocortin receptor 4)
R7H (p.Arg7His) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe ob. 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.
R7H (p.Arg7His) variant details
- p.Arg7His
- rs142837166
- ClinGen CA8981003
- NCI-TCGA Cosmic COSV1002
- ClinVar RCV003420742
- Conflicting interpretations
- not provided; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early onset severe ob
- Missense
- Variant Prioritization Score for Impact Estimate 0.167
- REVEL 0.18
- MetaLR 0.09
- MetaSVM -1.03
- CADD 5.67
- PolyPhen-2 0.00
- SIFT 1.00
- ClinVar: Conflicting classifications of pathogenicity (not provided; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; Early)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 0.00022)
- Structural context available