P35R (p.Pro35Arg) variant of GATA6 (Transcription factor GATA-6)
P35R (p.Pro35Arg) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data, published literature, and structural context.
P35R (p.Pro35Arg) variant details
- p.Pro35Arg
- gnomAD 18-22171248-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.597
- REVEL 0.49
- CADD 23.80
- PolyPhen-2 0.27
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available
- Literature evidence available