H24P (p.His24Pro) variant of PANK2 (Q9BZ23)
H24P (p.His24Pro) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.45 / 1. The record also includes population frequency data, published literature, and structural context.
H24P (p.His24Pro) variant details
- p.His24Pro
- gnomAD 20-3889504-G-GA
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.454
- CADD 26.80
- Population evidence available
- Structural context available
- Literature evidence available