M7R (p.Met7Arg) variant of GATA4 (Transcription factor GATA-4)
M7R (p.Met7Arg) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
M7R (p.Met7Arg) variant details
- p.Met7Arg
- gnomAD 8-11708332-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.782
- REVEL 0.89
- CADD 27.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the 1KG:MXL population (allele frequency 0.0081)
- Structural context available
- Literature evidence available