L5W (p.Leu5Trp) variant of GATA4 (Transcription factor GATA-4)
L5W (p.Leu5Trp) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.75 / 1. The record also includes population frequency data, published literature, and structural context.
L5W (p.Leu5Trp) variant details
- p.Leu5Trp
- gnomAD 8-11708326-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.84
- CADD 27.00
- PolyPhen-2 0.96
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available