M1W (p.Met1Trp) variant of PANK2 (Q9BZ23)
M1W (p.Met1Trp) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
M1W (p.Met1Trp) variant details
- p.Met1Trp
- gnomAD 20-3889492-CG-C
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.425
- CADD 24.40
- Population evidence available
- Structural context available
- Literature evidence available