N24S (p.Asn24Ser) variant of TAS2R5 (Taste receptor type 2 member 5)
N24S (p.Asn24Ser) 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 0.41 / 1. The record also includes population frequency data and structural context.
N24S (p.Asn24Ser) variant details
- p.Asn24Ser
- rs370940395
- ClinGen CA4519212
- ClinVar RCV004471484
- ExAC rs370940395
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.407
- REVEL 0.40
- ESM-1b 0.50
- AlphaMissense 0.35
- MetaLR 0.54
- MetaSVM -0.43
- CADD 21.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GIH population (allele frequency 0.02)
- Structural context available