M38I (p.Met38Ile) variant of PDX1 (P52945)
M38I (p.Met38Ile) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
M38I (p.Met38Ile) variant details
- p.Met38Ile
- TOPMed rs1217156206
- Missense
- Variant Prioritization Score for Impact Estimate 0.554
- REVEL 0.42
- CADD 24.70
- PolyPhen-2 0.07
- SIFT 0.02
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available