V2L (p.Val2Leu) variant of HTR2C (5-hydroxytryptamine receptor 2C)
V2L (p.Val2Leu) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
V2L (p.Val2Leu) variant details
- p.Val2Leu
- TOPMed rs200113008
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.13
- MetaLR 0.08
- MetaSVM -1.01
- CADD 24.50
- PolyPhen-2 0.99
- SIFT 0.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 4.4e-05)
- Structural context available