A14R (p.Ala14Arg) variant of DIP2B (Q9P265)
A14R (p.Ala14Arg) in DIP2B (Q9P265) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
A14R (p.Ala14Arg) variant details
- p.Ala14Arg
- gnomAD 12-50505178-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.432
- CADD 28.00
- Most common in the Finnish in Finland (FIN) population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available