R48C (p.Arg48Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R48C (p.Arg48Cys) 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 0.47 / 1. The record also includes population frequency data and structural context.
R48C (p.Arg48Cys) variant details
- p.Arg48Cys
- ExAC rs782171897
- TOPMed rs782171897
- gnomAD rs782171897
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.471
- REVEL 0.22
- ESM-1b 1.00
- AlphaMissense 0.41
- MetaLR 0.12
- MetaSVM -0.99
- CADD 29.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available