R36S (p.Arg36Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R36S (p.Arg36Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
R36S (p.Arg36Ser) variant details
- p.Arg36Ser
- ESP rs144119876
- ExAC rs144119876
- TOPMed rs144119876
- gnomAD rs144119876
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.12
- ESM-1b 0.00
- AlphaMissense 0.33
- MetaLR 0.02
- MetaSVM -1.07
- CADD 11.00
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available