R25S (p.Arg25Ser) variant of PANK2 (Q9BZ23)
R25S (p.Arg25Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data, published literature, and structural context.
R25S (p.Arg25Ser) variant details
- p.Arg25Ser
- gnomAD 20-3889503-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.404
- REVEL 0.39
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.72
- MetaSVM 0.26
- CADD 20.30
- Population evidence available
- Structural context available
- Literature evidence available