I48F (p.Ile48Phe) variant of TAS2R5 (Taste receptor type 2 member 5)
I48F (p.Ile48Phe) in TAS2R5 (Taste receptor type 2 member 5) is a missense change. Clinical records from ClinVar 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 0.12 / 1. The record also includes population frequency data and structural context.
I48F (p.Ile48Phe) variant details
- p.Ile48Phe
- rs765326902
- NCI-TCGA Cosmic COSV5609
- ExAC rs765326902
- gnomAD rs765326902
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.118
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.31
- MetaLR 0.00
- MetaSVM -0.92
- CADD 14.60
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the 1KG:PUR population (allele frequency 0.0051)
- Structural context available