Y7C (p.Tyr7Cys) variant of PDX1 (P52945)
Y7C (p.Tyr7Cys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.65 / 1. The record also includes population frequency data, published literature, and structural context.
Y7C (p.Tyr7Cys) variant details
- p.Tyr7Cys
- gnomAD 13-27920158-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.655
- REVEL 0.78
- CADD 28.50
- PolyPhen-2 0.53
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available