M38T (p.Met38Thr) variant of PDX1 (P52945)
M38T (p.Met38Thr) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.51 / 1. The record also includes population frequency data, published literature, and structural context.
M38T (p.Met38Thr) variant details
- p.Met38Thr
- gnomAD 13-27920251-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.511
- REVEL 0.44
- CADD 24.30
- PolyPhen-2 0.27
- SIFT 0.04
- Most common in the Non-Finnish European population (allele frequency 4.6e-06)
- Structural context available
- Literature evidence available