L126W (p.Leu126Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
L126W (p.Leu126Trp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.26 / 1. The record also includes population frequency data and structural context.
L126W (p.Leu126Trp) variant details
- p.Leu126Trp
- Ensembl rs1571508528
- Missense
- Variant Prioritization Score for Impact Estimate 0.261
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.12
- MetaSVM -0.83
- CADD 19.90
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available