S47A (p.Ser47Ala) variant of SV2A (Synaptic vesicle glycoprotein 2A)
S47A (p.Ser47Ala) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.20 / 1. The record also includes population frequency data and structural context.
S47A (p.Ser47Ala) variant details
- p.Ser47Ala
- ExAC rs782695424
- Missense
- Variant Prioritization Score for Impact Estimate 0.205
- REVEL 0.03
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.02
- MetaSVM -1.06
- CADD 20.20
- Most common in the HGDP:SAN population (allele frequency 0.25)
- Structural context available