H8Y (p.His8Tyr) variant of PANK2 (Q9BZ23)
H8Y (p.His8Tyr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H8Y (p.His8Tyr) variant details
- p.His8Tyr
- rs1180369007
- gnomAD 20-3889122-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.31
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM -0.03
- CADD 14.42
- Population evidence available
- Structural context available
- Literature evidence available