R22L (p.Arg22Leu) variant of PDX1 (P52945)
R22L (p.Arg22Leu) in PDX1 (P52945) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.69 / 1. The record also includes population frequency data and structural context.
R22L (p.Arg22Leu) variant details
- p.Arg22Leu
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.689
- REVEL 0.71
- CADD 24.70
- PolyPhen-2 0.94
- SIFT 0.15
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available