S100W (p.Ser100Trp) variant of GATA5 (Transcription factor GATA-5)
S100W (p.Ser100Trp) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data and structural context.
S100W (p.Ser100Trp) variant details
- p.Ser100Trp
- TOPMed rs1989825177
- Missense
- Variant Prioritization Score for Impact Estimate 0.512
- REVEL 0.40
- MetaLR 0.91
- MetaSVM 0.84
- CADD 24.30
- PolyPhen-2 0.89
- SIFT 0.06
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available