S98R (p.Ser98Arg) variant of GATA5 (Transcription factor GATA-5)
S98R (p.Ser98Arg) in GATA5 (Transcription factor GATA-5) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data and structural context.
S98R (p.Ser98Arg) variant details
- p.Ser98Arg
- 1000Genomes rs1276202653
- TOPMed rs1276202653
- gnomAD rs1276202653
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.421
- REVEL 0.47
- MetaLR 0.92
- MetaSVM 0.66
- CADD 14.90
- PolyPhen-2 0.10
- SIFT 0.04
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available