G22C (p.Gly22Cys) variant of PANK2 (Q9BZ23)
G22C (p.Gly22Cys) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
G22C (p.Gly22Cys) variant details
- p.Gly22Cys
- rs1214737069
- gnomAD 20-3889479-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.35
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.76
- MetaSVM 0.47
- CADD 23.40
- Population evidence available
- Structural context available
- Literature evidence available