L123Q (p.Leu123Gln) variant of HTR2A (5-hydroxytryptamine receptor 2A)
L123Q (p.Leu123Gln) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L123Q (p.Leu123Gln) variant details
- p.Leu123Gln
- gnomAD 13-46895539-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.428
- REVEL 0.39
- MetaLR 0.18
- MetaSVM -0.68
- CADD 27.30
- PolyPhen-2 0.98
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available