D42N (p.Asp42Asn) variant of HTR2C (5-hydroxytryptamine receptor 2C)
D42N (p.Asp42Asn) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar 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 0.16 / 1. The record also includes population frequency data and structural context.
D42N (p.Asp42Asn) variant details
- p.Asp42Asn
- cosmic curated COSV52202
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.159
- REVEL 0.11
- MetaLR 0.08
- MetaSVM -1.05
- CADD 18.40
- PolyPhen-2 0.00
- SIFT 0.31
- ClinVar: Uncertain significance (HTR2C-related disorder)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available