H24D (p.His24Asp) variant of PANK2 (Q9BZ23)
H24D (p.His24Asp) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data, published literature, and structural context.
H24D (p.His24Asp) variant details
- p.His24Asp
- rs1481266018
- gnomAD 20-3889168-T-TTG
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.2
- CADD 16.80
- Population evidence available
- Structural context available
- Literature evidence available