R2K (p.Arg2Lys) variant of PANK2 (Q9BZ23)
R2K (p.Arg2Lys) 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.
R2K (p.Arg2Lys) variant details
- p.Arg2Lys
- gnomAD 20-3889105-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.218
- REVEL 0.20
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.67
- MetaSVM -0.05
- CADD 8.57
- Population evidence available
- Structural context available
- Literature evidence available