S31R (p.Ser31Arg) variant of PDX1 (P52945)
S31R (p.Ser31Arg) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
S31R (p.Ser31Arg) variant details
- p.Ser31Arg
- gnomAD rs1313247586
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.50
- CADD 19.60
- PolyPhen-2 0.19
- SIFT 0.00
- Most common in the South Asian population (allele frequency 1.3e-05)
- Structural context available