R25G (p.Arg25Gly) variant of PANK2 (Q9BZ23)
R25G (p.Arg25Gly) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
R25G (p.Arg25Gly) variant details
- p.Arg25Gly
- rs769849040
- gnomAD 20-3889482-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.343
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.03
- CADD 22.00
- Population evidence available
- Structural context available
- Literature evidence available