L4R (p.Leu4Arg) variant of PANK2 (Q9BZ23)
L4R (p.Leu4Arg) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
L4R (p.Leu4Arg) variant details
- p.Leu4Arg
- rs1270981339
- gnomAD 20-3889111-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.272
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.04
- MetaLR 0.71
- MetaSVM 0.09
- CADD 1.28
- Population evidence available
- Structural context available
- Literature evidence available