Y37F (p.Tyr37Phe) variant of PDX1 (P52945)
Y37F (p.Tyr37Phe) 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; not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.66 / 1. The record also includes population frequency data and structural context.
Y37F (p.Tyr37Phe) variant details
- p.Tyr37Phe
- rs1242190304
- ClinGen CA387643864
- ClinVar RCV000992180
- ClinVar RCV002307649
- Uncertain significance
- not provided; not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.659
- REVEL 0.68
- CADD 25.40
- PolyPhen-2 0.99
- SIFT 0.05
- ClinVar: Uncertain significance (not provided; not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 8.5e-05)
- Structural context available