R2S (p.Arg2Ser) variant of PANK2 (Q9BZ23)
R2S (p.Arg2Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
R2S (p.Arg2Ser) variant details
- p.Arg2Ser
- rs2090063124
- gnomAD 20-3889106-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.289
- REVEL 0.32
- ESM-1b 0.00
- AlphaMissense 0.25
- MetaLR 0.66
- MetaSVM -0.08
- CADD 7.15
- Population evidence available
- Structural context available
- Literature evidence available