P38R (p.Pro38Arg) variant of GATA6 (Transcription factor GATA-6)
P38R (p.Pro38Arg) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.68 / 1. The record also includes population frequency data, published literature, and structural context.
P38R (p.Pro38Arg) variant details
- p.Pro38Arg
- gnomAD 18-22171257-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.678
- REVEL 0.61
- CADD 25.00
- PolyPhen-2 0.83
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available