V11A (p.Val11Ala) variant of PANK2 (Q9BZ23)
V11A (p.Val11Ala) 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.
V11A (p.Val11Ala) variant details
- p.Val11Ala
- rs865807872
- gnomAD 20-3889132-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.268
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.67
- MetaSVM -0.12
- CADD 13.77
- Population evidence available
- Structural context available
- Literature evidence available