L113R (p.Leu113Arg) variant of HTR2A (5-hydroxytryptamine receptor 2A)
L113R (p.Leu113Arg) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
L113R (p.Leu113Arg) variant details
- p.Leu113Arg
- gnomAD 13-46895569-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.638
- REVEL 0.64
- MetaLR 0.51
- MetaSVM 0.36
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available