F7C (p.Phe7Cys) variant of PANK2 (Q9BZ23)
F7C (p.Phe7Cys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data, published literature, and structural context.
F7C (p.Phe7Cys) variant details
- p.Phe7Cys
- rs1459133770
- gnomAD 20-3889120-T-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.19
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.69
- MetaSVM 0.05
- CADD 8.99
- Population evidence available
- Structural context available
- Literature evidence available