P17H (p.Pro17His) variant of PANK2 (Q9BZ23)
P17H (p.Pro17His) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data, published literature, and structural context.
P17H (p.Pro17His) variant details
- p.Pro17His
- rs1329524108
- gnomAD 20-3889495-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.388
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.75
- MetaSVM 0.15
- CADD 24.30
- Population evidence available
- Structural context available
- Literature evidence available