A30P (p.Ala30Pro) variant of GATA4 (Transcription factor GATA-4)
A30P (p.Ala30Pro) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.62 / 1. The record also includes population frequency data, published literature, and structural context.
A30P (p.Ala30Pro) variant details
- p.Ala30Pro
- gnomAD 8-11708400-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.66
- CADD 22.50
- PolyPhen-2 0.96
- SIFT 0.14
- Most common in the East Asian population (allele frequency 0.00015)
- Structural context available
- Literature evidence available