G22V (p.Gly22Val) variant of PANK2 (Q9BZ23)
G22V (p.Gly22Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
G22V (p.Gly22Val) variant details
- p.Gly22Val
- rs1352298565
- gnomAD 20-3889474-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.579
- REVEL 0.52
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.88
- MetaSVM 0.88
- CADD 25.30
- Population evidence available
- Structural context available
- Literature evidence available