S25N (p.Ser25Asn) variant of MC4R (Melanocortin receptor 4)
S25N (p.Ser25Asn) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.15 / 1. The record also includes population frequency data, published literature, and structural context.
S25N (p.Ser25Asn) variant details
- p.Ser25Asn
- gnomAD 18-60372276-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.15
- REVEL 0.07
- MetaLR 0.12
- MetaSVM -1.01
- CADD 10.50
- PolyPhen-2 0.00
- SIFT 0.51
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available