N3S (p.Asn3Ser) variant of MC4R (Melanocortin receptor 4)
N3S (p.Asn3Ser) in MC4R (Melanocortin receptor 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- gnomAD 18-60372342-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.06
- MetaLR 0.07
- MetaSVM -1.00
- CADD 19.90
- PolyPhen-2 0.00
- SIFT 0.17
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available