N40T (p.Asn40Thr) variant of TAS2R5 (Taste receptor type 2 member 5)
N40T (p.Asn40Thr) 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 0.08 / 1. The record also includes population frequency data and structural context.
N40T (p.Asn40Thr) variant details
- p.Asn40Thr
- rs144615570
- ClinGen CA4519223
- ClinVar RCV004471481
- 1000Genomes rs144615570
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0829
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.00
- MetaSVM -0.92
- CADD 0.05
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:PIMA population (allele frequency 0.091)
- Structural context available