R67P (p.Arg67Pro) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R67P (p.Arg67Pro) 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 0.24 / 1. The record also includes population frequency data and structural context.
R67P (p.Arg67Pro) variant details
- p.Arg67Pro
- ExAC rs782641312
- TOPMed rs782641312
- gnomAD rs782641312
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.243
- REVEL 0.14
- ESM-1b 0.00
- AlphaMissense 0.24
- MetaLR 0.04
- MetaSVM -1.10
- CADD 18.00
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available