A30T (p.Ala30Thr) variant of PDX1 (P52945)
A30T (p.Ala30Thr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data and structural context.
A30T (p.Ala30Thr) variant details
- p.Ala30Thr
- gnomAD rs1377828355
- Missense
- Variant Prioritization Score for Impact Estimate 0.233
- REVEL 0.16
- CADD 13.00
- PolyPhen-2 0.00
- SIFT 0.44
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available