K33Q (p.Lys33Gln) variant of MC4R (Melanocortin receptor 4)
K33Q (p.Lys33Gln) 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.
K33Q (p.Lys33Gln) variant details
- p.Lys33Gln
- gnomAD rs1184485471
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.05
- MetaLR 0.05
- MetaSVM -1.04
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.39
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available