V67E (p.Val67Glu) variant of AGXT (P21549)
V67E (p.Val67Glu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, experimental measurements, published literature, and structural context.
V67E (p.Val67Glu) variant details
- p.Val67Glu
- gnomAD 2-240869204-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.683
- REVEL 0.73
- ESM-1b 1.00
- AlphaMissense 0.84
- CADD 22.40
- PolyPhen-2 0.65
- SIFT 0.04
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- AGXT complementation assay *1 b: score 0.411
- Literature evidence available