P17T (p.Pro17Thr) variant of PANK2 (Q9BZ23)
P17T (p.Pro17Thr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.47 / 1. The record also includes population frequency data, published literature, and structural context.
P17T (p.Pro17Thr) variant details
- p.Pro17Thr
- gnomAD 20-3889149-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.473
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.74
- MetaSVM 0.29
- CADD 19.87
- Population evidence available
- Structural context available
- Literature evidence available