L58F (p.Leu58Phe) variant of HTR2C (5-hydroxytryptamine receptor 2C)
L58F (p.Leu58Phe) in HTR2C (5-hydroxytryptamine receptor 2C) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of HTR2C-related disorder. 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.
L58F (p.Leu58Phe) variant details
- p.Leu58Phe
- rs1448152418
- ClinGen CA414318082
- ClinVar RCV003420880
- TOPMed rs1448152418
- Uncertain significance
- HTR2C-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.274
- REVEL 0.22
- MetaLR 0.15
- MetaSVM -0.96
- CADD 21.00
- PolyPhen-2 0.51
- SIFT 0.00
- ClinVar: Uncertain significance (HTR2C-related disorder)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 2.2e-05)
- Structural context available