R10C (p.Arg10Cys) variant of PANK2 (Q9BZ23)
R10C (p.Arg10Cys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
R10C (p.Arg10Cys) variant details
- p.Arg10Cys
- gnomAD 20-3889128-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.316
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.73
- MetaSVM 0.12
- CADD 16.67
- Population evidence available
- Structural context available
- Literature evidence available