R136P (p.Arg136Pro) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R136P (p.Arg136Pro) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from ClinVar 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 0.19 / 1. The record also includes population frequency data and structural context.
R136P (p.Arg136Pro) variant details
- p.Arg136Pro
- 1000Genomes rs200722955
- ExAC rs200722955
- TOPMed rs200722955
- gnomAD rs200722955
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.192
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.09
- MetaSVM -0.99
- CADD 17.30
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 0.00011)
- Structural context available