F14L (p.Phe14Leu) variant of GATA6 (Transcription factor GATA-6)
F14L (p.Phe14Leu) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
F14L (p.Phe14Leu) variant details
- p.Phe14Leu
- gnomAD 18-22171184-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- REVEL 0.28
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.36
- Population evidence available
- Structural context available
- Literature evidence available