H12H (p.His12His) variant of PANK2 (Q9BZ23)
H12H (p.His12His) 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.
H12H (p.His12His) variant details
- p.His12His
- rs2090064000
- gnomAD 20-3889136-T-C
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.213
- CADD 10.60
- Most common in the Non-Finnish European population (allele frequency 2.8e-06)
- Structural context available
- Literature evidence available