D16V (p.Asp16Val) variant of PDX1 (P52945)
D16V (p.Asp16Val) in PDX1 (P52945) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.60 / 1. The record also includes population frequency data and structural context.
D16V (p.Asp16Val) variant details
- p.Asp16Val
- rs1333313782
- ClinGen CA387643543
- ClinVar RCV001998863
- gnomAD rs1333313782
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.6
- REVEL 0.68
- CADD 27.60
- PolyPhen-2 0.73
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9.3e-07)
- Structural context available