H12P (p.His12Pro) variant of PANK2 (Q9BZ23)
H12P (p.His12Pro) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.31 / 1. The record also includes population frequency data, published literature, and structural context.
H12P (p.His12Pro) variant details
- p.His12Pro
- gnomAD 20-3889135-A-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.307
- REVEL 0.37
- ESM-1b 0.00
- AlphaMissense 0.05
- MetaLR 0.67
- MetaSVM -0.05
- CADD 14.64
- Most common in the Non-Finnish European population (allele frequency 3.7e-06)
- Structural context available
- Literature evidence available