G34V (p.Gly34Val) variant of MC4R (Melanocortin receptor 4)
G34V (p.Gly34Val) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.18 / 1. The record also includes population frequency data and structural context.
G34V (p.Gly34Val) variant details
- p.Gly34Val
- ExAC rs754799513
- TOPMed rs754799513
- gnomAD rs754799513
- Missense
- Variant Prioritization Score for Impact Estimate 0.181
- REVEL 0.07
- MetaLR 0.08
- MetaSVM -1.08
- CADD 16.00
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Latino/Admixed American population (allele frequency 2.2e-05)
- Structural context available