L27V (p.Leu27Val) variant of PANK2 (Q9BZ23)
L27V (p.Leu27Val) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data, published literature, and structural context.
L27V (p.Leu27Val) variant details
- p.Leu27Val
- gnomAD 20-3889179-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.238
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.64
- MetaSVM -0.15
- CADD 8.72
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Literature evidence available