Q55H (p.Gln55His) variant of AGXT (P21549)
Q55H (p.Gln55His) 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.
Q55H (p.Gln55His) variant details
- p.Gln55His
- gnomAD rs1395481866
- Missense
- Variant Prioritization Score for Impact Estimate 0.637
- REVEL 0.71
- ESM-1b 0.00
- AlphaMissense 0.16
- CADD 34.00
- PolyPhen-2 0.95
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.957