A8T (p.Ala8Thr) variant of GATA4 (Transcription factor GATA-4)
A8T (p.Ala8Thr) 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, published literature, and structural context.
A8T (p.Ala8Thr) variant details
- p.Ala8Thr
- gnomAD 8-11708334-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.539
- REVEL 0.49
- CADD 22.40
- PolyPhen-2 0.12
- SIFT 0.37
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available
- Literature evidence available