A17V (p.Ala17Val) variant of GATA6 (Transcription factor GATA-6)
A17V (p.Ala17Val) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
A17V (p.Ala17Val) variant details
- p.Ala17Val
- gnomAD 18-22171194-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.29
- CADD 22.50
- PolyPhen-2 0.01
- SIFT 0.00
- Most common in the African/African-American population (allele frequency 3e-05)
- Structural context available
- Literature evidence available