S22G (p.Ser22Gly) variant of GATA6 (Transcription factor GATA-6)
S22G (p.Ser22Gly) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data, published literature, and structural context.
S22G (p.Ser22Gly) variant details
- p.Ser22Gly
- gnomAD 18-22171208-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.37
- CADD 11.10
- PolyPhen-2 0.00
- SIFT 0.54
- Most common in the Non-Finnish European population (allele frequency 1.3e-05)
- Structural context available
- Literature evidence available