R10L (p.Arg10Leu) variant of PANK2 (Q9BZ23)
R10L (p.Arg10Leu) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data, published literature, and structural context.
R10L (p.Arg10Leu) variant details
- p.Arg10Leu
- rs1473379200
- gnomAD 20-3889129-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.214
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.66
- MetaSVM -0.12
- CADD 10.59
- Population evidence available
- Structural context available
- Literature evidence available