G121R (p.Gly121Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
G121R (p.Gly121Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
G121R (p.Gly121Arg) variant details
- p.Gly121Arg
- Ensembl rs2092489594
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.23
- MetaLR 0.06
- MetaSVM -1.05
- CADD 20.40
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available