G39D (p.Gly39Asp) variant of PDX1 (P52945)
G39D (p.Gly39Asp) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data and structural context.
G39D (p.Gly39Asp) variant details
- p.Gly39Asp
- gnomAD rs1957772534
- Missense
- Variant Prioritization Score for Impact Estimate 0.577
- REVEL 0.53
- CADD 25.40
- PolyPhen-2 0.23
- SIFT 0.01
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available