V13A (p.Val13Ala) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V13A (p.Val13Ala) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
V13A (p.Val13Ala) variant details
- p.Val13Ala
- ExAC rs781840760
- gnomAD rs781840760
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- MetaLR 0.11
- MetaSVM -0.96
- CADD 23.10
- PolyPhen-2 0.24
- SIFT 0.32
- Most common in the East Asian population (allele frequency 3.3e-05)
- Structural context available