W8R (p.Trp8Arg) variant of GATA6 (Transcription factor GATA-6)
W8R (p.Trp8Arg) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data and structural context.
W8R (p.Trp8Arg) variant details
- p.Trp8Arg
- ExAC rs747871809
- gnomAD rs747871809
- Missense
- Variant Prioritization Score for Impact Estimate 0.563
- REVEL 0.60
- CADD 24.80
- PolyPhen-2 0.11
- SIFT 0.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00019)
- Structural context available