A6S (p.Ala6Ser) variant of GATA4 (Transcription factor GATA-4)
A6S (p.Ala6Ser) in GATA4 (Transcription factor GATA-4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
A6S (p.Ala6Ser) variant details
- p.Ala6Ser
- gnomAD 8-11708328-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.67
- REVEL 0.63
- CADD 25.30
- PolyPhen-2 0.28
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available