H12Q (p.His12Gln) variant of PANK2 (Q9BZ23)
H12Q (p.His12Gln) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data, published literature, and structural context.
H12Q (p.His12Gln) variant details
- p.His12Gln
- gnomAD 20-3889136-T-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.326
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.13
- MetaLR 0.70
- MetaSVM 0.12
- CADD 14.58
- Most common in the Non-Finnish European population (allele frequency 9.2e-07)
- Structural context available
- Literature evidence available