R79H (p.Arg79His) variant of TAS2R5 (Taste receptor type 2 member 5)
R79H (p.Arg79His) in TAS2R5 (Taste receptor type 2 member 5) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.09 / 1. The record also includes population frequency data and structural context.
R79H (p.Arg79His) variant details
- p.Arg79His
- rs142235954
- NCI-TCGA Cosmic COSV5609
- ESP rs142235954
- ExAC rs142235954
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.0877
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.00
- MetaSVM -0.92
- CADD 0.75
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Ashkenazi Jewish population (allele frequency 0.00058)
- Structural context available