Q12R (p.Gln12Arg) variant of PDX1 (P52945)
Q12R (p.Gln12Arg) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
Q12R (p.Gln12Arg) variant details
- p.Gln12Arg
- gnomAD rs1386559001
- Missense
- Variant Prioritization Score for Impact Estimate 0.26
- REVEL 0.17
- CADD 21.50
- PolyPhen-2 0.00
- SIFT 0.07
- Most common in the African/African-American population (allele frequency 3.2e-05)
- Structural context available