P102S (p.Pro102Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
P102S (p.Pro102Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.39 / 1. The record also includes population frequency data and structural context.
P102S (p.Pro102Ser) variant details
- p.Pro102Ser
- cosmic curated COSV64965
- TOPMed rs1553764114
- gnomAD rs1553764114
- Missense
- Variant Prioritization Score for Impact Estimate 0.394
- REVEL 0.25
- ESM-1b 0.00
- AlphaMissense 0.92
- MetaLR 0.13
- MetaSVM -0.88
- CADD 25.40
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available