R18L (p.Arg18Leu) variant of MC4R (Melanocortin receptor 4)
R18L (p.Arg18Leu) 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 not provided; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R18L (p.Arg18Leu) variant details
- p.Arg18Leu
- rs780671601
- ClinGen CA8980994
- ClinVar RCV002015992
- ClinVar RCV002507777
- Uncertain significance
- not provided; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20
- Missense
- Variant Prioritization Score for Impact Estimate 0.302
- REVEL 0.31
- MetaLR 0.02
- MetaSVM -0.96
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.74
- ClinVar: Uncertain significance (not provided; BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available