M38L (p.Met38Leu) variant of PDX1 (P52945)
M38L (p.Met38Leu) 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 0.43 / 1. The record also includes population frequency data and structural context.
M38L (p.Met38Leu) variant details
- p.Met38Leu
- rs1423992623
- ClinGen CA387643871
- ClinVar RCV003734352
- TOPMed rs1423992623
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.432
- REVEL 0.31
- CADD 21.00
- PolyPhen-2 0.01
- SIFT 0.07
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.4e-05)
- Structural context available