A65V (p.Ala65Val) variant of GATA5 (Transcription factor GATA-5)
A65V (p.Ala65Val) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
A65V (p.Ala65Val) variant details
- p.Ala65Val
- gnomAD rs1555897030
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- REVEL 0.43
- MetaLR 0.93
- MetaSVM 0.73
- CADD 22.80
- PolyPhen-2 0.84
- SIFT 0.05
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available