H8Q (p.His8Gln) variant of PANK2 (Q9BZ23)
H8Q (p.His8Gln) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
H8Q (p.His8Gln) variant details
- p.His8Gln
- rs1216238658
- gnomAD 20-3889124-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.227
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.68
- MetaSVM -0.05
- CADD 14.03
- Population evidence available
- Structural context available
- Literature evidence available