R136W (p.Arg136Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R136W (p.Arg136Trp) 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 0.27 / 1. The record also includes population frequency data and structural context.
R136W (p.Arg136Trp) variant details
- p.Arg136Trp
- rs782452680
- ClinGen CA1071242
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.269
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.18
- MetaLR 0.09
- MetaSVM -0.96
- CADD 24.00
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available