S67R (p.Ser67Arg) variant of TAS2R5 (Taste receptor type 2 member 5)
S67R (p.Ser67Arg) 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 0.19 / 1. The record also includes population frequency data and structural context.
S67R (p.Ser67Arg) variant details
- p.Ser67Arg
- gnomAD rs1800431328
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.188
- REVEL 0.11
- ESM-1b 0.21
- AlphaMissense 0.83
- MetaLR 0.00
- MetaSVM -0.92
- CADD 3.41
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUSOUTHAFRICA population (allele frequency 0.062)
- Structural context available