H4Y (p.His4Tyr) variant of AGXT (P21549)
H4Y (p.His4Tyr) 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, published literature, and structural context.
H4Y (p.His4Tyr) variant details
- p.His4Tyr
- gnomAD 2-240868875-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.264
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.10
- CADD 0.61
- PolyPhen-2 0.00
- SIFT 0.25
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- AGXT complementation assay *1 B: score 0.934
- Literature evidence available