L18V (p.Leu18Val) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L18V (p.Leu18Val) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
L18V (p.Leu18Val) variant details
- p.Leu18Val
- gnomAD rs1556423227
- Missense
- Variant Prioritization Score for Impact Estimate 0.379
- REVEL 0.18
- MetaLR 0.22
- MetaSVM -0.64
- CADD 24.30
- PolyPhen-2 0.99
- SIFT 0.24
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available