R25I (p.Arg25Ile) variant of GATA6 (Transcription factor GATA-6)
R25I (p.Arg25Ile) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R25I (p.Arg25Ile) variant details
- p.Arg25Ile
- gnomAD 18-22171218-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.401
- REVEL 0.34
- CADD 22.10
- PolyPhen-2 0.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available