G6V (p.Gly6Val) variant of GATA6 (Transcription factor GATA-6)
G6V (p.Gly6Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
G6V (p.Gly6Val) variant details
- p.Gly6Val
- ExAC rs774239468
- gnomAD rs774239468
- Missense
- Variant Prioritization Score for Impact Estimate 0.448
- REVEL 0.41
- CADD 23.50
- PolyPhen-2 0.06
- SIFT 0.00
- Population evidence available
- Structural context available