S47Y (p.Ser47Tyr) variant of GATA5 (Transcription factor GATA-5)
S47Y (p.Ser47Tyr) 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.
S47Y (p.Ser47Tyr) variant details
- p.Ser47Tyr
- TOPMed rs1989833047
- Missense
- Variant Prioritization Score for Impact Estimate 0.51
- REVEL 0.39
- MetaLR 0.83
- MetaSVM 0.45
- CADD 22.60
- PolyPhen-2 0.03
- SIFT 0.03
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available