V8M (p.Val8Met) variant of AGXT (P21549)
V8M (p.Val8Met) in AGXT (P21549) 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 0.43 / 1. The record also includes population frequency data, experimental measurements, and structural context.
V8M (p.Val8Met) variant details
- p.Val8Met
- TOPMed rs796052057
- gnomAD rs796052057
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.431
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.27
- CADD 23.60
- PolyPhen-2 0.94
- SIFT 0.01
- ClinVar: Uncertain significance (not specified)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.93