F43I (p.Phe43Ile) variant of HTR2A (5-hydroxytryptamine receptor 2A)
F43I (p.Phe43Ile) 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.
F43I (p.Phe43Ile) variant details
- p.Phe43Ile
- TOPMed rs1459537012
- gnomAD rs1459537012
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.164
- REVEL 0.06
- MetaLR 0.04
- MetaSVM -1.02
- CADD 22.20
- PolyPhen-2 0.00
- SIFT 0.42
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available