L26V (p.Leu26Val) variant of PANK2 (Q9BZ23)
L26V (p.Leu26Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data, published literature, and structural context.
L26V (p.Leu26Val) variant details
- p.Leu26Val
- rs1178275314
- gnomAD 20-3889176-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.315
- REVEL 0.28
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.70
- MetaSVM 0.01
- CADD 10.56
- Most common in the Middle Eastern population (allele frequency 0.00017)
- Structural context available
- Literature evidence available