R76C (p.Arg76Cys) variant of TAS2R5 (Taste receptor type 2 member 5)
R76C (p.Arg76Cys) 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 0.14 / 1. The record also includes population frequency data and structural context.
R76C (p.Arg76Cys) variant details
- p.Arg76Cys
- rs201786698
- ClinGen CA4519239
- NCI-TCGA Cosmic COSV5609
- ClinVar RCV004471482
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.00
- MetaSVM -0.93
- CADD 9.31
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:DRUZE population (allele frequency 0.1)
- Structural context available