P23L (p.Pro23Leu) variant of GATA4 (Transcription factor GATA-4)
P23L (p.Pro23Leu) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data and structural context.
P23L (p.Pro23Leu) variant details
- p.Pro23Leu
- cosmic curated COSV10884
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.47
- MetaLR 0.26
- MetaSVM -0.53
- CADD 25.10
- PolyPhen-2 0.87
- SIFT 0.01
- Population evidence available
- Structural context available