H6Y (p.His6Tyr) variant of MC4R (Melanocortin receptor 4)
H6Y (p.His6Tyr) in MC4R (Melanocortin receptor 4) is a missense change. 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.
H6Y (p.His6Tyr) variant details
- p.His6Tyr
- Ensembl rs1205226959
- Missense
- Variant Prioritization Score for Impact Estimate 0.191
- REVEL 0.08
- MetaLR 0.11
- MetaSVM -0.97
- CADD 13.20
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available