Q21K (p.Gln21Lys) variant of PDX1 (P52945)
Q21K (p.Gln21Lys) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.72 / 1. The record also includes population frequency data, published literature, and structural context.
Q21K (p.Gln21Lys) variant details
- p.Gln21Lys
- gnomAD 13-27920199-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.717
- REVEL 0.69
- CADD 24.30
- PolyPhen-2 0.68
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available