A68D (p.Ala68Asp) variant of GATA5 (Transcription factor GATA-5)
A68D (p.Ala68Asp) in GATA5 (Transcription factor GATA-5) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data and structural context.
A68D (p.Ala68Asp) variant details
- p.Ala68Asp
- gnomAD rs1555897027
- Missense
- Variant Prioritization Score for Impact Estimate 0.465
- REVEL 0.35
- MetaLR 0.90
- MetaSVM 0.59
- CADD 22.50
- PolyPhen-2 0.80
- SIFT 0.01
- Population evidence available
- Structural context available