L126V (p.Leu126Val) variant of HTR2A (5-hydroxytryptamine receptor 2A)
L126V (p.Leu126Val) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
L126V (p.Leu126Val) variant details
- p.Leu126Val
- ExAC rs766423438
- gnomAD rs766423438
- Missense
- Variant Prioritization Score for Impact Estimate 0.457
- REVEL 0.33
- MetaLR 0.43
- MetaSVM -0.26
- CADD 25.60
- PolyPhen-2 0.74
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available