R103Q (p.Arg103Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R103Q (p.Arg103Gln) 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 0.26 / 1. The record also includes population frequency data and structural context.
R103Q (p.Arg103Gln) variant details
- p.Arg103Gln
- rs587760193
- NCI-TCGA Cosmic COSV6496
- 1000Genomes rs587760193
- ExAC rs587760193
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.258
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.15
- MetaLR 0.03
- MetaSVM -1.10
- CADD 19.40
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available