G22R (p.Gly22Arg) variant of PANK2 (Q9BZ23)
G22R (p.Gly22Arg) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
G22R (p.Gly22Arg) variant details
- p.Gly22Arg
- rs1190185351
- gnomAD 20-3889164-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.207
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.66
- MetaSVM -0.05
- CADD 4.78
- Population evidence available
- Structural context available
- Literature evidence available