F20V (p.Phe20Val) variant of PDX1 (P52945)
F20V (p.Phe20Val) in PDX1 (P52945) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.61 / 1. The record also includes population frequency data, published literature, and structural context.
F20V (p.Phe20Val) variant details
- p.Phe20Val
- gnomAD 13-27920196-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.606
- REVEL 0.62
- CADD 23.80
- PolyPhen-2 0.08
- SIFT 0.00
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available
- Literature evidence available