P23A (p.Pro23Ala) variant of GATA4 (Transcription factor GATA-4)
P23A (p.Pro23Ala) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data, published literature, and structural context.
P23A (p.Pro23Ala) variant details
- p.Pro23Ala
- gnomAD 8-11708379-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.38
- REVEL 0.33
- CADD 20.10
- PolyPhen-2 0.65
- SIFT 0.53
- Most common in the 1KG:CLM population (allele frequency 0.0053)
- Structural context available
- Literature evidence available