V127I (p.Val127Ile) variant of HTR2A (5-hydroxytryptamine receptor 2A)
V127I (p.Val127Ile) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
V127I (p.Val127Ile) variant details
- p.Val127Ile
- gnomAD rs1264306261
- Missense
- Variant Prioritization Score for Impact Estimate 0.613
- REVEL 0.52
- MetaLR 0.58
- MetaSVM 0.25
- CADD 25.50
- PolyPhen-2 0.78
- SIFT 0.01
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available