D71N (p.Asp71Asn) variant of GATA5 (Transcription factor GATA-5)
D71N (p.Asp71Asn) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
D71N (p.Asp71Asn) variant details
- p.Asp71Asn
- TOPMed rs967186417
- gnomAD rs967186417
- Missense
- Variant Prioritization Score for Impact Estimate 0.631
- REVEL 0.50
- MetaLR 0.93
- MetaSVM 0.73
- CADD 23.70
- PolyPhen-2 0.52
- SIFT 0.11
- Population evidence available
- Structural context available