Q21R (p.Gln21Arg) variant of PDX1 (P52945)
Q21R (p.Gln21Arg) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.67 / 1. The record also includes population frequency data, published literature, and structural context.
Q21R (p.Gln21Arg) variant details
- p.Gln21Arg
- gnomAD 13-27920200-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.671
- REVEL 0.70
- CADD 25.20
- PolyPhen-2 0.75
- SIFT 0.00
- Population evidence available
- Structural context available
- Literature evidence available