T71S (p.Thr71Ser) variant of SV2A (Synaptic vesicle glycoprotein 2A)
T71S (p.Thr71Ser) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
T71S (p.Thr71Ser) variant details
- p.Thr71Ser
- gnomAD rs1553764135
- Missense
- Variant Prioritization Score for Impact Estimate 0.254
- REVEL 0.10
- ESM-1b 0.00
- AlphaMissense 0.06
- MetaLR 0.01
- MetaSVM -1.02
- CADD 11.30
- Most common in the HGDP:PAPUANSEPIK population (allele frequency 1)
- Structural context available