A34T (p.Ala34Thr) variant of PDX1 (P52945)
A34T (p.Ala34Thr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
A34T (p.Ala34Thr) variant details
- p.Ala34Thr
- TOPMed rs1957772368
- gnomAD rs1957772368
- Missense
- Variant Prioritization Score for Impact Estimate 0.599
- REVEL 0.48
- CADD 25.30
- PolyPhen-2 0.81
- SIFT 0.06
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available