R13H (p.Arg13His) variant of GATA6 (Transcription factor GATA-6)
R13H (p.Arg13His) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- gnomAD 18-22171182-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.56
- CADD 27.30
- PolyPhen-2 0.54
- SIFT 0.00
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available
- Literature evidence available