R67L (p.Arg67Leu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R67L (p.Arg67Leu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
R67L (p.Arg67Leu) variant details
- p.Arg67Leu
- ExAC rs782641312
- TOPMed rs782641312
- gnomAD rs782641312
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.242
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.04
- MetaSVM -1.09
- CADD 17.90
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available