G107V (p.Gly107Val) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G107V (p.Gly107Val) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.21 / 1. The record also includes population frequency data and structural context.
G107V (p.Gly107Val) variant details
- p.Gly107Val
- Ensembl rs2092490294
- Missense
- Variant Prioritization Score for Impact Estimate 0.206
- REVEL 0.13
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.02
- MetaSVM -1.07
- CADD 14.40
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available