H12R (p.His12Arg) variant of PANK2 (Q9BZ23)
H12R (p.His12Arg) 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.
H12R (p.His12Arg) variant details
- p.His12Arg
- rs761235861
- gnomAD 20-3889135-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.275
- REVEL 0.29
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.67
- MetaSVM -0.01
- CADD 14.95
- Most common in the South Asian population (allele frequency 6.2e-05)
- Structural context available
- Literature evidence available