P14H (p.Pro14His) variant of GATA4 (Transcription factor GATA-4)
P14H (p.Pro14His) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
P14H (p.Pro14His) variant details
- p.Pro14His
- gnomAD 8-11708353-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.532
- REVEL 0.41
- CADD 21.30
- PolyPhen-2 0.11
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available