R10W (p.Arg10Trp) variant of PANK2 (Q9BZ23)
R10W (p.Arg10Trp) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.53 / 1. The record also includes population frequency data, published literature, and structural context.
R10W (p.Arg10Trp) variant details
- p.Arg10Trp
- gnomAD 20-3889449-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.529
- REVEL 0.64
- ESM-1b 0.00
- AlphaMissense 0.20
- MetaLR 0.87
- MetaSVM 0.84
- CADD 23.10
- Population evidence available
- Structural context available
- Literature evidence available