S20F (p.Ser20Phe) variant of PANK2 (Q9BZ23)
S20F (p.Ser20Phe) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
S20F (p.Ser20Phe) variant details
- p.Ser20Phe
- gnomAD 20-3889154-ACT-A
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.237
- CADD 22.10
- Most common in the East Asian population (allele frequency 5.2e-05)
- Structural context available
- Literature evidence available