G24R (p.Gly24Arg) variant of GATA4 (Transcription factor GATA-4)
G24R (p.Gly24Arg) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
G24R (p.Gly24Arg) variant details
- p.Gly24Arg
- gnomAD 8-11708382-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.667
- REVEL 0.73
- CADD 25.40
- PolyPhen-2 0.97
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available