L29P (p.Leu29Pro) variant of PANK2 (Q9BZ23)
L29P (p.Leu29Pro) 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.
L29P (p.Leu29Pro) variant details
- p.Leu29Pro
- gnomAD 20-3889186-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.46
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.73
- MetaSVM 0.21
- CADD 7.43
- Population evidence available
- Structural context available
- Literature evidence available