E31V (p.Glu31Val) variant of GATA6 (Transcription factor GATA-6)
E31V (p.Glu31Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data and structural context.
E31V (p.Glu31Val) variant details
- p.Glu31Val
- ExAC rs749485622
- gnomAD rs749485622
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.38
- CADD 24.60
- PolyPhen-2 0.03
- SIFT 0.00
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available