M38I (p.Met38Ile) variant of AGXT (P21549)
M38I (p.Met38Ile) in AGXT (P21549) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of AGXT-related disorder. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, experimental measurements, and structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- gnomAD rs1234749250
- Uncertain significance
- AGXT-related disorder
- Missense
- Variant Prioritization Score for Impact Estimate 0.286
- REVEL 0.24
- ESM-1b 0.11
- AlphaMissense 0.20
- CADD 16.40
- PolyPhen-2 0.02
- SIFT 0.03
- ClinVar: Uncertain significance (AGXT-related disorder)
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.86