D42H (p.Asp42His) variant of HTR2C (5-hydroxytryptamine receptor 2C)
D42H (p.Asp42His) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
D42H (p.Asp42His) variant details
- p.Asp42His
- rs143566182
- ClinGen CA10495398
- ClinVar RCV000914492
- ClinVar RCV003913049
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.20
- MetaLR 0.13
- MetaSVM -0.98
- CADD 17.80
- PolyPhen-2 0.01
- SIFT 0.16
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the HGDP:YORUBA population (allele frequency 0.032)
- Structural context available