A15F (p.Ala15Phe) variant of PANK2 (Q9BZ23)
A15F (p.Ala15Phe) 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.
A15F (p.Ala15Phe) variant details
- p.Ala15Phe
- gnomAD 20-3889489-G-GTTT
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.408
- CADD 24.50
- Population evidence available
- Structural context available
- Literature evidence available