H8H (p.His8His) variant of PANK2 (Q9BZ23)
H8H (p.His8His) in PANK2 (Q9BZ23) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
H8H (p.His8His) variant details
- p.His8His
- rs1216238658
- gnomAD 20-3889124-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.214
- CADD 9.02
- Population evidence available
- Structural context available
- Literature evidence available