Y8H (p.Tyr8His) variant of PDX1 (P52945)
Y8H (p.Tyr8His) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and structural context.
Y8H (p.Tyr8His) variant details
- p.Tyr8His
- TOPMed rs1957771306
- Missense
- Variant Prioritization Score for Impact Estimate 0.736
- REVEL 0.77
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available