E102R (p.Glu102Arg) variant of HTR2A (5-hydroxytryptamine receptor 2A)
E102R (p.Glu102Arg) in HTR2A (5-hydroxytryptamine receptor 2A) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data, published literature, and structural context.
E102R (p.Glu102Arg) variant details
- p.Glu102Arg
- gnomAD 13-46895604-T-TA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.456
- CADD 32.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available