D115N (p.Asp115Asn) variant of SV2A (Synaptic vesicle glycoprotein 2A)
D115N (p.Asp115Asn) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.28 / 1. The record also includes population frequency data and structural context.
D115N (p.Asp115Asn) variant details
- p.Asp115Asn
- NCI-TCGA TCGA novel
- ESP rs371863053
- ExAC rs371863053
- TOPMed rs371863053
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.281
- REVEL 0.07
- ESM-1b 0.00
- AlphaMissense 0.12
- MetaLR 0.01
- MetaSVM -0.99
- CADD 17.50
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:BOUGAINVILLE population (allele frequency 1)
- Structural context available