F26L (p.Phe26Leu) variant of GATA4 (Transcription factor GATA-4)
F26L (p.Phe26Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data, published literature, and structural context.
F26L (p.Phe26Leu) variant details
- p.Phe26Leu
- gnomAD 8-11708390-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.75
- CADD 23.20
- PolyPhen-2 0.16
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available