A27V (p.Ala27Val) variant of MC4R (Melanocortin receptor 4)
A27V (p.Ala27Val) in MC4R (Melanocortin receptor 4) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Early onset severe obesity. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
A27V (p.Ala27Val) variant details
- p.Ala27Val
- NCI-TCGA TCGA novel
- TOPMed rs1167880919
- gnomAD rs1167880919
- Uncertain significance
- Early onset severe obesity
- Missense
- Variant Prioritization Score for Impact Estimate 0.194
- REVEL 0.03
- MetaLR 0.05
- MetaSVM -1.09
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.23
- ClinVar: Uncertain significance (Early onset severe obesity)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 3.7e-05)
- Structural context available