N3S (p.Asn3Ser) variant of HTR2C (5-hydroxytryptamine receptor 2C)
N3S (p.Asn3Ser) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HTR2C-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.19 / 1. The record also includes population frequency data and structural context.
N3S (p.Asn3Ser) variant details
- p.Asn3Ser
- rs142701803
- ClinGen CA10495347
- ClinVar RCV003937114
- ESP rs142701803
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.187
- REVEL 0.04
- MetaLR 0.07
- MetaSVM -1.06
- CADD 24.60
- PolyPhen-2 0.99
- SIFT 0.00
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 0.00066)
- Structural context available