L3F (p.Leu3Phe) variant of GATA6 (Transcription factor GATA-6)
L3F (p.Leu3Phe) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
L3F (p.Leu3Phe) variant details
- p.Leu3Phe
- gnomAD 18-22171153-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.536
- REVEL 0.39
- CADD 24.30
- PolyPhen-2 0.42
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available