F43V (p.Phe43Val) variant of HTR2A (5-hydroxytryptamine receptor 2A)
F43V (p.Phe43Val) in HTR2A (5-hydroxytryptamine receptor 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.16 / 1. The record also includes population frequency data and structural context.
F43V (p.Phe43Val) variant details
- p.Phe43Val
- rs1459537012
- ClinGen CA388154799
- ClinVar RCV004320592
- TOPMed rs1459537012
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.16
- REVEL 0.05
- MetaLR 0.04
- MetaSVM -1.02
- CADD 21.90
- PolyPhen-2 0.00
- SIFT 0.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available