S72L (p.Ser72Leu) variant of GATA5 (Transcription factor GATA-5)
S72L (p.Ser72Leu) 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 0.49 / 1. The record also includes population frequency data and structural context.
S72L (p.Ser72Leu) variant details
- p.Ser72Leu
- rs1989829039
- ClinGen CA409557399
- ClinVar RCV002806736
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.487
- REVEL 0.41
- MetaLR 0.88
- MetaSVM 0.47
- CADD 17.30
- PolyPhen-2 0.10
- SIFT 0.06
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available