S19L (p.Ser19Leu) variant of GATA5 (Transcription factor GATA-5)
S19L (p.Ser19Leu) 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 0.63 / 1. The record also includes population frequency data and structural context.
S19L (p.Ser19Leu) variant details
- p.Ser19Leu
- 1000Genomes rs200383755
- ExAC rs200383755
- TOPMed rs200383755
- gnomAD rs200383755
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.627
- REVEL 0.55
- MetaLR 0.91
- MetaSVM 1.00
- CADD 23.90
- PolyPhen-2 0.40
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign (in dbSNP:rs200383755)
- UniProt: Likely benign (in dbSNP:rs200383755)
- Most common in the 1KG:MSL population (allele frequency 0.013)
- Structural context available