D71Y (p.Asp71Tyr) variant of GATA5 (Transcription factor GATA-5)
D71Y (p.Asp71Tyr) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data and structural context.
D71Y (p.Asp71Tyr) variant details
- p.Asp71Tyr
- TOPMed rs967186417
- gnomAD rs967186417
- Missense
- Variant Prioritization Score for Impact Estimate 0.641
- REVEL 0.49
- MetaLR 0.95
- MetaSVM 0.84
- CADD 24.00
- PolyPhen-2 0.88
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available