V29A (p.Val29Ala) variant of TAS2R5 (Taste receptor type 2 member 5)
V29A (p.Val29Ala) 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 0.16 / 1. The record also includes population frequency data and structural context.
V29A (p.Val29Ala) variant details
- p.Val29Ala
- TOPMed rs1454447711
- gnomAD rs1454447711
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.156
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.00
- MetaSVM -0.89
- CADD 14.00
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the HGDP:TU population (allele frequency 0.1)
- Structural context available