R36T (p.Arg36Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R36T (p.Arg36Thr) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.30 / 1. The record also includes population frequency data and structural context.
R36T (p.Arg36Thr) variant details
- p.Arg36Thr
- ExAC rs782459392
- TOPMed rs782459392
- gnomAD rs782459392
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.19
- MetaLR 0.04
- MetaSVM -1.06
- CADD 22.30
- Most common in the African/African-American population (allele frequency 9.7e-05)
- Structural context available