S21Y (p.Ser21Tyr) variant of PANK2 (Q9BZ23)
S21Y (p.Ser21Tyr) 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.
S21Y (p.Ser21Tyr) variant details
- p.Ser21Tyr
- gnomAD 20-3889162-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.225
- REVEL 0.19
- ESM-1b 0.28
- AlphaMissense 0.12
- MetaLR 0.66
- MetaSVM -0.18
- CADD 3.52
- Population evidence available
- Structural context available
- Literature evidence available