R30S (p.Arg30Ser) variant of PANK2 (Q9BZ23)
R30S (p.Arg30Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
R30S (p.Arg30Ser) variant details
- p.Arg30Ser
- gnomAD 20-3889188-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.223
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.17
- MetaLR 0.71
- MetaSVM -0.03
- CADD 3.20
- Population evidence available
- Structural context available
- Literature evidence available