R13S (p.Arg13Ser) variant of GATA6 (Transcription factor GATA-6)
R13S (p.Arg13Ser) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
R13S (p.Arg13Ser) variant details
- p.Arg13Ser
- gnomAD 18-22171181-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.582
- REVEL 0.58
- CADD 24.10
- PolyPhen-2 0.29
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available