R22Q (p.Arg22Gln) variant of PDX1 (P52945)
R22Q (p.Arg22Gln) 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 0.56 / 1. The record also includes population frequency data and structural context.
R22Q (p.Arg22Gln) variant details
- p.Arg22Gln
- rs913578374
- gnomAD rs913578374
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.564
- REVEL 0.49
- CADD 24.80
- PolyPhen-2 0.89
- SIFT 0.10
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available