D37V (p.Asp37Val) variant of MC4R (Melanocortin receptor 4)
D37V (p.Asp37Val) 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 BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; not provided; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data, published literature, and structural context.
D37V (p.Asp37Val) variant details
- p.Asp37Val
- rs13447325
- ClinGen CA213428
- ClinVar RCV000015395
- ClinVar RCV000435394
- Conflicting interpretations
- BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.185
- REVEL 0.06
- MetaLR 0.05
- MetaSVM -1.07
- CADD 20.70
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20; not provided; not s)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the Non-Finnish European population (allele frequency 0.00026)
- Structural context available
- Cited in: Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with… (PMID 10199800)
- Cited in: Melanocortin-4 receptor gene: case-control study and transmission disequilibrium test confirm that functionally… (PMID 12970296)