H4L (p.His4Leu) variant of AGXT (P21549)
H4L (p.His4Leu) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H4L (p.His4Leu) variant details
- p.His4Leu
- ExAC rs762363201
- TOPMed rs762363201
- gnomAD rs762363201
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- CADD 9.24
- PolyPhen-2 0.01
- SIFT 0.08
- Most common in the REMAINING population (allele frequency 5e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.934