R13H (p.Arg13His) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R13H (p.Arg13His) 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 0.31 / 1. The record also includes population frequency data and structural context.
R13H (p.Arg13His) variant details
- p.Arg13His
- rs141056600
- ClinGen CA1071316
- ClinVar RCV004250639
- ESP rs141056600
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.314
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.21
- MetaLR 0.03
- MetaSVM -1.11
- CADD 21.60
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available