P35H (p.Pro35His) variant of AGXT (P21549)
P35H (p.Pro35His) in AGXT (P21549) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, experimental measurements, and structural context.
P35H (p.Pro35His) variant details
- p.Pro35His
- ExAC rs779013628
- TOPMed rs779013628
- gnomAD rs779013628
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.42
- ESM-1b 1.00
- AlphaMissense 0.11
- CADD 18.70
- PolyPhen-2 0.12
- SIFT 0.04
- ClinVar: Uncertain significance (Inborn genetic diseases)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.1e-05)
- Structural context available
- AGXT complementation assay *1 B: score 0.582