P16L (p.Pro16Leu) variant of PANK2 (Q9BZ23)
P16L (p.Pro16Leu) 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.
P16L (p.Pro16Leu) variant details
- p.Pro16Leu
- rs2090064466
- gnomAD 20-3889147-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.69
- MetaSVM 0.23
- CADD 18.54
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available
- Literature evidence available