A14R (p.Ala14Arg) variant of PANK2 (Q9BZ23)
A14R (p.Ala14Arg) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.64 / 1. The record also includes population frequency data, published literature, and structural context.
A14R (p.Ala14Arg) variant details
- p.Ala14Arg
- rs766448021
- gnomAD 20-3889137-TG-T
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.638
- CADD 26.40
- Population evidence available
- Structural context available
- Literature evidence available