P59S (p.Pro59Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
P59S (p.Pro59Ser) 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.
P59S (p.Pro59Ser) variant details
- p.Pro59Ser
- rs782202922
- ExAC rs782202922
- gnomAD rs782202922
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.276
- REVEL 0.05
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.03
- MetaSVM -1.10
- CADD 19.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the HGDP:YORUBA population (allele frequency 0.21)
- Structural context available