A14E (p.Ala14Glu) variant of DIP2B (Q9P265)
A14E (p.Ala14Glu) in DIP2B (Q9P265) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
A14E (p.Ala14Glu) variant details
- p.Ala14Glu
- TOPMed rs1381140625
- gnomAD rs1381140625
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.378
- REVEL 0.26
- MetaLR 0.08
- MetaSVM -0.93
- CADD 22.10
- PolyPhen-2 0.01
- SIFT 1.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available