R103W (p.Arg103Trp) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R103W (p.Arg103Trp) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes population frequency data and structural context.
R103W (p.Arg103Trp) variant details
- p.Arg103Trp
- cosmic curated COSV64964
- ESP rs144624887
- ExAC rs144624887
- TOPMed rs144624887
- Missense
- Variant Prioritization Score for Impact Estimate 0.338
- REVEL 0.18
- ESM-1b 0.79
- AlphaMissense 0.37
- MetaLR 0.06
- MetaSVM -1.06
- CADD 24.00
- Most common in the HGDP:LAHU population (allele frequency 1)
- Structural context available