M113V (p.Met113Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
M113V (p.Met113Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.13 / 1. The record also includes population frequency data and structural context.
M113V (p.Met113Val) variant details
- p.Met113Val
- ExAC rs782489043
- gnomAD rs782489043
- Missense
- Variant Prioritization Score for Impact Estimate 0.132
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.97
- CADD 10.70
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available