E50K (p.Glu50Lys) variant of GATA5 (Transcription factor GATA-5)
E50K (p.Glu50Lys) 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 specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
E50K (p.Glu50Lys) variant details
- p.Glu50Lys
- rs1555897051
- ClinGen CA409557675
- ClinVar RCV004395123
- gnomAD rs1555897051
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.538
- REVEL 0.47
- MetaLR 0.89
- MetaSVM 0.53
- CADD 19.90
- PolyPhen-2 0.55
- SIFT 0.22
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available