H24Y (p.His24Tyr) variant of PANK2 (Q9BZ23)
H24Y (p.His24Tyr) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data, published literature, and structural context.
H24Y (p.His24Tyr) variant details
- p.His24Tyr
- rs377348840
- gnomAD 20-3889170-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.62
- MetaSVM -0.20
- CADD 8.10
- Population evidence available
- Structural context available
- Literature evidence available