D55N (p.Asp55Asn) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D55N (p.Asp55Asn) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.38 / 1. The record also includes population frequency data and structural context.
D55N (p.Asp55Asn) variant details
- p.Asp55Asn
- gnomAD rs1553764150
- Missense
- Variant Prioritization Score for Impact Estimate 0.381
- REVEL 0.10
- ESM-1b 0.86
- AlphaMissense 0.12
- MetaLR 0.07
- MetaSVM -1.11
- CADD 22.40
- Most common in the HGDP:SAN population (allele frequency 1)
- Structural context available