V127L (p.Val127Leu) variant of HTR2A (5-hydroxytryptamine receptor 2A)
V127L (p.Val127Leu) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data, published literature, and structural context.
V127L (p.Val127Leu) variant details
- p.Val127Leu
- gnomAD 13-46895528-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.706
- REVEL 0.67
- MetaLR 0.64
- MetaSVM 0.48
- CADD 25.80
- PolyPhen-2 0.78
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available