A52V (p.Ala52Val) variant of TAS2R5 (Taste receptor type 2 member 5)
A52V (p.Ala52Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
A52V (p.Ala52Val) variant details
- p.Ala52Val
- rs376612372
- ClinGen CA4519230
- ClinVar RCV004334726
- ESP rs376612372
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.279
- REVEL 0.20
- ESM-1b 0.28
- AlphaMissense 0.45
- MetaLR 0.31
- MetaSVM -0.76
- CADD 22.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PATHAN population (allele frequency 0.083)
- Structural context available