F28V (p.Phe28Val) variant of PDX1 (P52945)
F28V (p.Phe28Val) in PDX1 (P52945) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain risk allele in the context of Pancreatic hypoplasia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data and structural context.
F28V (p.Phe28Val) variant details
- p.Phe28Val
- rs1457762802
- ClinGen CA387643773
- ClinVar RCV002463992
- TOPMed rs1457762802
- Uncertain risk allele
- Pancreatic hypoplasia
- Missense
- Variant Prioritization Score for Impact Estimate 0.454
- REVEL 0.42
- CADD 24.20
- PolyPhen-2 0.04
- SIFT 0.01
- ClinVar: Uncertain risk allele (Pancreatic hypoplasia)
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 9.5e-05)
- Structural context available