S31I (p.Ser31Ile) variant of PDX1 (P52945)
S31I (p.Ser31Ile) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.56 / 1. The record also includes population frequency data, published literature, and structural context.
S31I (p.Ser31Ile) variant details
- p.Ser31Ile
- gnomAD 13-27920230-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.56
- REVEL 0.50
- CADD 25.20
- PolyPhen-2 0.48
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available