A60V (p.Ala60Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A60V (p.Ala60Val) 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 0.30 / 1. The record also includes population frequency data and structural context.
A60V (p.Ala60Val) variant details
- p.Ala60Val
- rs1183913151
- ClinGen CA342270754
- ClinVar RCV004363682
- TOPMed rs1183913151
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.298
- REVEL 0.16
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.04
- MetaSVM -1.10
- CADD 18.50
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available