R8P (p.Arg8Pro) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R8P (p.Arg8Pro) 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.
R8P (p.Arg8Pro) variant details
- p.Arg8Pro
- rs140742320
- ClinGen CA29983215
- ClinVar RCV004069910
- ESP rs140742320
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.434
- REVEL 0.27
- ESM-1b 0.00
- AlphaMissense 0.52
- MetaLR 0.42
- MetaSVM -0.18
- CADD 26.20
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available