M38L (p.Met38Leu) variant of AGXT (P21549)
M38L (p.Met38Leu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- gnomAD 2-240868977-A-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.25
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.08
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 1.00
- Most common in the Ashkenazi Jewish population (allele frequency 4e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.86
- Literature evidence available