L5L (p.Leu5Leu) variant of GATA4 (Transcription factor GATA-4)
L5L (p.Leu5Leu) in GATA4 (Transcription factor GATA-4) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L5L (p.Leu5Leu) variant details
- p.Leu5Leu
- rs55670878
- gnomAD 8-11708325-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.215
- CADD 10.30
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available