A15V (p.Ala15Val) variant of PANK2 (Q9BZ23)
A15V (p.Ala15Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data, published literature, and structural context.
A15V (p.Ala15Val) variant details
- p.Ala15Val
- rs759331809
- gnomAD 20-3889144-C-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.3
- REVEL 0.34
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.65
- MetaSVM -0.14
- CADD 14.96
- Population evidence available
- Structural context available
- Literature evidence available