P13T (p.Pro13Thr) variant of GATA4 (Transcription factor GATA-4)
P13T (p.Pro13Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
P13T (p.Pro13Thr) variant details
- p.Pro13Thr
- gnomAD 8-11708349-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.653
- REVEL 0.75
- CADD 23.40
- PolyPhen-2 0.62
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available