A15G (p.Ala15Gly) variant of PANK2 (Q9BZ23)
A15G (p.Ala15Gly) 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.
A15G (p.Ala15Gly) variant details
- p.Ala15Gly
- gnomAD 20-3889144-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.66
- MetaSVM -0.04
- CADD 14.37
- Population evidence available
- Structural context available
- Literature evidence available