S22I (p.Ser22Ile) variant of GATA6 (Transcription factor GATA-6)
S22I (p.Ser22Ile) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.52 / 1. The record also includes population frequency data, published literature, and structural context.
S22I (p.Ser22Ile) variant details
- p.Ser22Ile
- gnomAD 18-22171209-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.523
- REVEL 0.45
- CADD 24.10
- PolyPhen-2 0.09
- SIFT 0.01
- Population evidence available
- Structural context available
- Literature evidence available