L14R (p.Leu14Arg) variant of AGXT (P21549)
L14R (p.Leu14Arg) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, experimental measurements, and structural context.
L14R (p.Leu14Arg) variant details
- p.Leu14Arg
- 1000Genomes rs552120667
- ExAC rs552120667
- gnomAD rs552120667
- Missense
- Variant Prioritization Score for Impact Estimate 0.694
- REVEL 0.78
- ESM-1b 0.80
- AlphaMissense 0.58
- CADD 26.60
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the 1KG:KHV population (allele frequency 0.005)
- Structural context available
- AGXT complementation assay *2 b: score 0.985