Q21H (p.Gln21His) variant of PDX1 (P52945)
Q21H (p.Gln21His) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data, published literature, and structural context.
Q21H (p.Gln21His) variant details
- p.Gln21His
- gnomAD 13-27920201-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.547
- REVEL 0.59
- CADD 22.50
- PolyPhen-2 0.09
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available