S24P (p.Ser24Pro) variant of GATA6 (Transcription factor GATA-6)
S24P (p.Ser24Pro) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
S24P (p.Ser24Pro) variant details
- p.Ser24Pro
- gnomAD 18-22171214-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.262
- REVEL 0.29
- CADD 22.00
- PolyPhen-2 0.02
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available