P38H (p.Pro38His) variant of GATA6 (Transcription factor GATA-6)
P38H (p.Pro38His) in GATA6 (Transcription factor GATA-6) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data and structural context.
P38H (p.Pro38His) variant details
- p.Pro38His
- cosmic curated COSV99332
- Missense
- Variant Prioritization Score for Impact Estimate 0.615
- REVEL 0.54
- CADD 23.20
- PolyPhen-2 0.10
- SIFT 0.00
- Population evidence available
- Structural context available