V67A (p.Val67Ala) variant of MC4R (Melanocortin receptor 4)
V67A (p.Val67Ala) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
V67A (p.Val67Ala) variant details
- p.Val67Ala
- gnomAD rs1439634703
- Missense
- Variant Prioritization Score for Impact Estimate 0.222
- REVEL 0.09
- MetaLR 0.00
- MetaSVM -0.95
- CADD 18.00
- PolyPhen-2 0.00
- SIFT 0.79
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.4e-05)
- Structural context available