L19F (p.Leu19Phe) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L19F (p.Leu19Phe) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
L19F (p.Leu19Phe) variant details
- p.Leu19Phe
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.321
- REVEL 0.14
- MetaLR 0.20
- MetaSVM -0.50
- CADD 24.40
- PolyPhen-2 0.51
- SIFT 0.08
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available