Y46H (p.Tyr46His) variant of SV2A (Synaptic vesicle glycoprotein 2A)
Y46H (p.Tyr46His) 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 0.33 / 1. The record also includes population frequency data and structural context.
Y46H (p.Tyr46His) variant details
- p.Tyr46His
- rs781932183
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64965
- ExAC rs781932183
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.332
- REVEL 0.23
- ESM-1b 0.00
- AlphaMissense 0.65
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.90
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the REMAINING population (allele frequency 0.00015)
- Structural context available