R8Q (p.Arg8Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R8Q (p.Arg8Gln) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.40 / 1. The record also includes population frequency data and structural context.
R8Q (p.Arg8Gln) variant details
- p.Arg8Gln
- rs140742320
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- ESP rs140742320
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.396
- REVEL 0.21
- ESM-1b 0.00
- AlphaMissense 0.26
- MetaLR 0.34
- MetaSVM -0.38
- CADD 25.90
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available