V13L (p.Val13Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V13L (p.Val13Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
V13L (p.Val13Leu) variant details
- p.Val13Leu
- gnomAD X-114731295-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.05
- MetaLR 0.07
- MetaSVM -1.05
- CADD 17.60
- PolyPhen-2 0.06
- SIFT 0.97
- Most common in the Ashkenazi Jewish population (allele frequency 5.5e-05)
- Structural context available
- Literature evidence available