P9Q (p.Pro9Gln) variant of PANK2 (Q9BZ23)
P9Q (p.Pro9Gln) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
P9Q (p.Pro9Gln) variant details
- p.Pro9Gln
- gnomAD 20-3889126-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.35
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.12
- CADD 16.30
- Population evidence available
- Structural context available
- Literature evidence available