L23R (p.Leu23Arg) variant of PANK2 (Q9BZ23)
L23R (p.Leu23Arg) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
L23R (p.Leu23Arg) variant details
- p.Leu23Arg
- rs1475079321
- gnomAD 20-3889168-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.219
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.68
- MetaSVM -0.14
- CADD 6.77
- Population evidence available
- Structural context available
- Literature evidence available