A39E (p.Ala39Glu) variant of AGXT (P21549)
A39E (p.Ala39Glu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A39E (p.Ala39Glu) variant details
- p.Ala39Glu
- gnomAD rs1305673661
- Missense
- Variant Prioritization Score for Impact Estimate 0.228
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.11
- CADD 0.79
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.85