I3F (p.Ile3Phe) variant of HTR2A (5-hydroxytryptamine receptor 2A)
I3F (p.Ile3Phe) 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 0.13 / 1. The record also includes population frequency data and structural context.
I3F (p.Ile3Phe) variant details
- p.Ile3Phe
- rs532924268
- ClinGen CA249262512
- ClinVar RCV004271312
- TOPMed rs532924268
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.131
- REVEL 0.06
- MetaLR 0.09
- MetaSVM -1.02
- CADD 17.60
- PolyPhen-2 0.02
- SIFT 0.13
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BIAKA population (allele frequency 0.045)
- Structural context available