S31T (p.Ser31Thr) variant of PDX1 (P52945)
S31T (p.Ser31Thr) in PDX1 (P52945) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.50 / 1. The record also includes population frequency data and structural context.
S31T (p.Ser31Thr) variant details
- p.Ser31Thr
- TOPMed rs1449072088
- gnomAD rs1449072088
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.499
- REVEL 0.42
- CADD 23.10
- PolyPhen-2 0.09
- SIFT 0.03
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available