Y45H (p.Tyr45His) variant of GATA5 (Transcription factor GATA-5)
Y45H (p.Tyr45His) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data and structural context.
Y45H (p.Tyr45His) variant details
- p.Tyr45His
- TOPMed rs1452168504
- gnomAD rs1452168504
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.746
- REVEL 0.77
- MetaLR 0.98
- MetaSVM 1.04
- CADD 25.50
- PolyPhen-2 1.00
- SIFT 0.04
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 8.8e-05)
- Structural context available