Q21L (p.Gln21Leu) variant of PDX1 (P52945)
Q21L (p.Gln21Leu) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.71 / 1. The record also includes population frequency data and structural context.
Q21L (p.Gln21Leu) variant details
- p.Gln21Leu
- rs1358532247
- ClinGen CA387643651
- ClinVar RCV003670912
- TOPMed rs1358532247
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.711
- REVEL 0.77
- CADD 26.00
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available