P9S (p.Pro9Ser) variant of PANK2 (Q9BZ23)
P9S (p.Pro9Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data, published literature, and structural context.
P9S (p.Pro9Ser) variant details
- p.Pro9Ser
- gnomAD 20-3889125-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.69
- MetaSVM 0.02
- CADD 14.30
- Population evidence available
- Structural context available
- Literature evidence available