V130M (p.Val130Met) variant of HTR2A (5-hydroxytryptamine receptor 2A)
V130M (p.Val130Met) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
V130M (p.Val130Met) variant details
- p.Val130Met
- 1000Genomes rs550284437
- gnomAD rs550284437
- Missense
- Variant Prioritization Score for Impact Estimate 0.496
- REVEL 0.34
- MetaLR 0.42
- MetaSVM -0.20
- CADD 25.70
- PolyPhen-2 0.95
- SIFT 0.00
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available