L4S (p.Leu4Ser) variant of PANK2 (Q9BZ23)
L4S (p.Leu4Ser) in PANK2 (Q9BZ23) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.43 / 1. The record also includes population frequency data, published literature, and structural context.
L4S (p.Leu4Ser) variant details
- p.Leu4Ser
- rs2090073827
- gnomAD 20-3889441-T-C
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.41
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.72
- MetaSVM 0.13
- CADD 21.60
- Population evidence available
- Structural context available
- Literature evidence available