Y45F (p.Tyr45Phe) variant of GATA5 (Transcription factor GATA-5)
Y45F (p.Tyr45Phe) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
Y45F (p.Tyr45Phe) variant details
- p.Tyr45Phe
- gnomAD rs1989833406
- Missense
- Variant Prioritization Score for Impact Estimate 0.69
- REVEL 0.72
- MetaLR 0.98
- MetaSVM 1.05
- CADD 24.70
- PolyPhen-2 1.00
- SIFT 0.00
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available