K71R (p.Lys71Arg) variant of MC4R (Melanocortin receptor 4)
K71R (p.Lys71Arg) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
K71R (p.Lys71Arg) variant details
- p.Lys71Arg
- ExAC rs762757992
- gnomAD rs762757992
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.11
- MetaLR 0.01
- MetaSVM -0.89
- CADD 22.50
- PolyPhen-2 0.16
- SIFT 0.24
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available