N97D (p.Asn97Asp) variant of MC4R (Melanocortin receptor 4)
N97D (p.Asn97Asp) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes published literature and structural context.
N97D (p.Asn97Asp) variant details
- p.Asn97Asp
- rs121913565
- ClinGen CA210723
- ClinVar RCV000015409
- UniProt VAR 038638
- Pathogenic
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.612
- AlphaMissense 0.87
- MetaLR 0.63
- MetaSVM 0.49
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.25
- ClinVar: Pathogenic (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function… (PMID 12588803)
- Cited in: Clinical spectrum of obesity and mutations in the melanocortin 4 receptor gene. (PMID 12646665)