A52D (p.Ala52Asp) variant of TAS2R5 (Taste receptor type 2 member 5)
A52D (p.Ala52Asp) in TAS2R5 (Taste receptor type 2 member 5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. 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.
A52D (p.Ala52Asp) variant details
- p.Ala52Asp
- ESP rs376612372
- ExAC rs376612372
- TOPMed rs376612372
- gnomAD rs376612372
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.25
- ESM-1b 1.00
- AlphaMissense 0.74
- MetaLR 0.29
- MetaSVM -0.77
- CADD 22.40
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available