S28N (p.Ser28Asn) variant of HTR2C (5-hydroxytryptamine receptor 2C)
S28N (p.Ser28Asn) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
S28N (p.Ser28Asn) variant details
- p.Ser28Asn
- gnomAD rs201731034
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.03
- MetaLR 0.09
- MetaSVM -0.98
- CADD 15.10
- PolyPhen-2 0.01
- SIFT 0.31
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available