R13C (p.Arg13Cys) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R13C (p.Arg13Cys) 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 0.43 / 1. The record also includes population frequency data and structural context.
R13C (p.Arg13Cys) variant details
- p.Arg13Cys
- rs781957523
- ClinGen CA1071317
- NCI-TCGA Cosmic COSV1009
- cosmic curated COSV10097
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.43
- REVEL 0.15
- ESM-1b 1.00
- AlphaMissense 0.59
- MetaLR 0.07
- MetaSVM -1.11
- CADD 26.70
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available