H4Q (p.His4Gln) variant of AGXT (P21549)
H4Q (p.His4Gln) in AGXT (P21549) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, experimental measurements, and structural context.
H4Q (p.His4Gln) variant details
- p.His4Gln
- Ensembl rs1559567678
- Missense
- Variant Prioritization Score for Impact Estimate 0.22
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 4.50
- PolyPhen-2 0.00
- SIFT 0.16
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.934