H8P (p.His8Pro) variant of PANK2 (Q9BZ23)
H8P (p.His8Pro) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
H8P (p.His8Pro) variant details
- p.His8Pro
- gnomAD 20-3889123-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.406
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.70
- MetaSVM 0.00
- CADD 14.18
- Population evidence available
- Structural context available
- Literature evidence available