S30F (p.Ser30Phe) variant of GATA5 (Transcription factor GATA-5)
S30F (p.Ser30Phe) 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 0.84 / 1. The record also includes population frequency data and structural context.
S30F (p.Ser30Phe) variant details
- p.Ser30Phe
- rs2146490833
- ClinGen CA409557904
- ClinVar RCV002003234
- Ensembl rs2146490833
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.839
- REVEL 0.86
- MetaLR 0.97
- MetaSVM 1.09
- CADD 26.20
- PolyPhen-2 0.97
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available