S36P (p.Ser36Pro) variant of MC4R (Melanocortin receptor 4)
S36P (p.Ser36Pro) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data, published literature, and structural context.
S36P (p.Ser36Pro) variant details
- p.Ser36Pro
- gnomAD 18-60372244-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.136
- REVEL 0.05
- MetaLR 0.08
- MetaSVM -0.96
- CADD 20.90
- PolyPhen-2 0.00
- SIFT 0.10
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available