V11I (p.Val11Ile) variant of PANK2 (Q9BZ23)
V11I (p.Val11Ile) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.36 / 1. The record also includes population frequency data, published literature, and structural context.
V11I (p.Val11Ile) variant details
- p.Val11Ile
- rs886044063
- gnomAD 20-3889131-G-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.26
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.66
- MetaSVM -0.02
- CADD 12.57
- Population evidence available
- Structural context available
- Literature evidence available