H24Y (p.His24Tyr) variant of GATA5 (Transcription factor GATA-5)
H24Y (p.His24Tyr) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from ClinVar, EBI, 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 0.84 / 1. The record also includes population frequency data and structural context.
H24Y (p.His24Tyr) variant details
- p.His24Tyr
- rs1382123738
- ClinGen CA409557941
- ClinVar RCV003561986
- TOPMed rs1382123738
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.87
- MetaLR 0.97
- MetaSVM 1.08
- CADD 26.40
- PolyPhen-2 0.69
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available