L23P (p.Leu23Pro) variant of PANK2 (Q9BZ23)
L23P (p.Leu23Pro) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.23 / 1. The record also includes population frequency data, published literature, and structural context.
L23P (p.Leu23Pro) variant details
- p.Leu23Pro
- gnomAD 20-3889168-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.72
- MetaSVM -0.04
- CADD 7.01
- Population evidence available
- Structural context available
- Literature evidence available