M38V (p.Met38Val) variant of PDX1 (P52945)
M38V (p.Met38Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
M38V (p.Met38Val) variant details
- p.Met38Val
- gnomAD 13-27920250-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.389
- REVEL 0.24
- CADD 19.40
- PolyPhen-2 0.01
- SIFT 0.13
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available