V12G (p.Val12Gly) variant of TAS2R5 (Taste receptor type 2 member 5)
V12G (p.Val12Gly) 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 0.34 / 1. The record also includes population frequency data and structural context.
V12G (p.Val12Gly) variant details
- p.Val12Gly
- TOPMed rs1800428631
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.339
- REVEL 0.10
- ESM-1b 0.52
- AlphaMissense 0.21
- MetaLR 0.01
- MetaSVM -0.96
- CADD 22.70
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:BANTUKENYA population (allele frequency 0.15)
- Structural context available