A40G (p.Ala40Gly) variant of AGXT (P21549)
A40G (p.Ala40Gly) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, experimental measurements, and structural context.
A40G (p.Ala40Gly) variant details
- p.Ala40Gly
- TOPMed rs1335566978
- gnomAD rs1335566978
- Missense
- Variant Prioritization Score for Impact Estimate 0.644
- REVEL 0.61
- ESM-1b 1.00
- AlphaMissense 0.31
- CADD 21.40
- PolyPhen-2 0.42
- SIFT 0.02
- Most common in the African/African-American population (allele frequency 2.6e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.637