F17C (p.Phe17Cys) variant of TAS2R5 (Taste receptor type 2 member 5)
F17C (p.Phe17Cys) in TAS2R5 (Taste receptor type 2 member 5) 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 0.23 / 1. The record also includes population frequency data and structural context.
F17C (p.Phe17Cys) variant details
- p.Phe17Cys
- rs1386406855
- ClinGen CA369561561
- ClinVar RCV004104406
- TOPMed rs1386406855
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.231
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.41
- MetaLR 0.19
- MetaSVM -0.97
- CADD 22.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.2)
- Structural context available