H24Q (p.His24Gln) variant of PANK2 (Q9BZ23)
H24Q (p.His24Gln) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.44 / 1. The record also includes population frequency data, published literature, and structural context.
H24Q (p.His24Gln) variant details
- p.His24Gln
- rs780163359
- gnomAD 20-3889172-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.44
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.68
- MetaSVM -0.01
- CADD 7.62
- Population evidence available
- Structural context available
- Literature evidence available