R10P (p.Arg10Pro) variant of PANK2 (Q9BZ23)
R10P (p.Arg10Pro) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.42 / 1. The record also includes population frequency data, published literature, and structural context.
R10P (p.Arg10Pro) variant details
- p.Arg10Pro
- gnomAD 20-3889456-G-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.423
- REVEL 0.58
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.69
- MetaSVM 0.08
- CADD 18.15
- Population evidence available
- Structural context available
- Literature evidence available