N40S (p.Asn40Ser) variant of TAS2R5 (Taste receptor type 2 member 5)
N40S (p.Asn40Ser) 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 0.08 / 1. The record also includes population frequency data and structural context.
N40S (p.Asn40Ser) variant details
- p.Asn40Ser
- 1000Genomes rs144615570
- ESP rs144615570
- ExAC rs144615570
- TOPMed rs144615570
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0842
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.00
- MetaSVM -0.94
- CADD 0.04
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available