A15R (p.Ala15Arg) variant of PANK2 (Q9BZ23)
A15R (p.Ala15Arg) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
A15R (p.Ala15Arg) variant details
- p.Ala15Arg
- gnomAD 20-3889518-T-TC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.415
- CADD 23.80
- Population evidence available
- Structural context available
- Literature evidence available