R10Q (p.Arg10Gln) variant of PANK2 (Q9BZ23)
R10Q (p.Arg10Gln) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.54 / 1. The record also includes population frequency data, published literature, and structural context.
R10Q (p.Arg10Gln) variant details
- p.Arg10Gln
- rs911560228
- gnomAD 20-3889450-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.543
- REVEL 0.51
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.84
- MetaSVM 0.68
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available