R30H (p.Arg30His) variant of PANK2 (Q9BZ23)
R30H (p.Arg30His) in PANK2 (Q9BZ23) is a protein-truncating change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data, published literature, and structural context.
R30H (p.Arg30His) variant details
- p.Arg30His
- gnomAD 20-3889182-TTCCTC
- Frameshift
- Variant Prioritization Score for Impact Estimate 0.247
- CADD 23.50
- Most common in the Non-Finnish European population (allele frequency 7.2e-06)
- Structural context available
- Literature evidence available