P17S (p.Pro17Ser) variant of PANK2 (Q9BZ23)
P17S (p.Pro17Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
P17S (p.Pro17Ser) variant details
- p.Pro17Ser
- gnomAD 20-3889494-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.24
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.73
- MetaSVM 0.13
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available