K33R (p.Lys33Arg) variant of MC4R (Melanocortin receptor 4)
K33R (p.Lys33Arg) 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, published literature, and structural context.
K33R (p.Lys33Arg) variant details
- p.Lys33Arg
- gnomAD 18-60372252-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.178
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.03
- CADD 19.70
- PolyPhen-2 0.00
- SIFT 0.43
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available