A17T (p.Ala17Thr) variant of GATA4 (Transcription factor GATA-4)
A17T (p.Ala17Thr) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A17T (p.Ala17Thr) variant details
- p.Ala17Thr
- gnomAD 8-11708361-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.426
- REVEL 0.36
- CADD 22.70
- PolyPhen-2 0.92
- SIFT 0.11
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available