A14V (p.Ala14Val) variant of PANK2 (Q9BZ23)
A14V (p.Ala14Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data, published literature, and structural context.
A14V (p.Ala14Val) variant details
- p.Ala14Val
- rs1401923962
- gnomAD 20-3889141-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.345
- REVEL 0.36
- ESM-1b 0.00
- AlphaMissense 0.16
- MetaLR 0.70
- MetaSVM 0.05
- CADD 17.33
- Population evidence available
- Structural context available
- Literature evidence available