M7L (p.Met7Leu) variant of GATA4 (Transcription factor GATA-4)
M7L (p.Met7Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
M7L (p.Met7Leu) variant details
- p.Met7Leu
- gnomAD 8-11708331-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.642
- REVEL 0.67
- CADD 22.80
- PolyPhen-2 0.77
- SIFT 0.72
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available