R103L (p.Arg103Leu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R103L (p.Arg103Leu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
R103L (p.Arg103Leu) variant details
- p.Arg103Leu
- 1000Genomes rs587760193
- ExAC rs587760193
- TOPMed rs587760193
- gnomAD rs587760193
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.278
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.29
- MetaLR 0.04
- MetaSVM -1.12
- CADD 22.50
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available