A30T (p.Ala30Thr) variant of GATA4 (Transcription factor GATA-4)
A30T (p.Ala30Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- TOPMed rs1799995012
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.53
- MetaLR 0.91
- MetaSVM 0.86
- CADD 17.30
- PolyPhen-2 0.30
- SIFT 0.36
- Population evidence available
- Structural context available