Y8N (p.Tyr8Asn) variant of PDX1 (P52945)
Y8N (p.Tyr8Asn) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data, published literature, and structural context.
Y8N (p.Tyr8Asn) variant details
- p.Tyr8Asn
- gnomAD 13-27920160-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.775
- REVEL 0.84
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available