M27L (p.Met27Leu) variant of GATA4 (Transcription factor GATA-4)
M27L (p.Met27Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.46 / 1. The record also includes population frequency data and structural context.
M27L (p.Met27Leu) variant details
- p.Met27Leu
- ExAC rs770398681
- gnomAD rs770398681
- Missense
- Variant Prioritization Score for Impact Estimate 0.46
- REVEL 0.51
- MetaLR 0.67
- MetaSVM 0.35
- CADD 17.20
- PolyPhen-2 0.30
- SIFT 1.00
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available