P35L (p.Pro35Leu) variant of GATA6 (Transcription factor GATA-6)
P35L (p.Pro35Leu) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data, published literature, and structural context.
P35L (p.Pro35Leu) variant details
- p.Pro35Leu
- gnomAD 18-22171248-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.662
- REVEL 0.57
- CADD 26.60
- PolyPhen-2 0.85
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available