A7E (p.Ala7Glu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
A7E (p.Ala7Glu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes population frequency data and structural context.
A7E (p.Ala7Glu) variant details
- p.Ala7Glu
- 1000Genomes rs201115463
- ExAC rs201115463
- TOPMed rs201115463
- gnomAD rs201115463
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.108
- REVEL 0.03
- MetaLR 0.08
- MetaSVM -1.03
- CADD 14.30
- PolyPhen-2 0.20
- SIFT 0.07
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the South Asian population (allele frequency 2.3e-05)
- Structural context available