A139V (p.Ala139Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A139V (p.Ala139Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data and structural context.
A139V (p.Ala139Val) variant details
- p.Ala139Val
- TOPMed rs2092488555
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.06
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.14
- MetaSVM -0.89
- CADD 19.40
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available