L5M (p.Leu5Met) variant of GATA5 (Transcription factor GATA-5)
L5M (p.Leu5Met) 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 0.52 / 1. The record also includes population frequency data and structural context.
L5M (p.Leu5Met) variant details
- p.Leu5Met
- NCI-TCGA TCGA novel
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.522
- REVEL 0.51
- MetaLR 0.96
- MetaSVM 1.10
- CADD 23.60
- PolyPhen-2 0.98
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- UniProt: Uncertain significance
- Population evidence available
- Structural context available