A7V (p.Ala7Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
A7V (p.Ala7Val) 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 0.12 / 1. The record also includes population frequency data and structural context.
A7V (p.Ala7Val) variant details
- p.Ala7Val
- rs201115463
- ClinGen CA10495348
- NCI-TCGA Cosmic COSV5220
- cosmic curated COSV52202
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.122
- REVEL 0.09
- MetaLR 0.07
- MetaSVM -1.05
- CADD 5.06
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the 1KG:BEB population (allele frequency 0.0069)
- Structural context available