A60T (p.Ala60Thr) variant of SV2A (Synaptic vesicle glycoprotein 2A)
A60T (p.Ala60Thr) 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.
A60T (p.Ala60Thr) variant details
- p.Ala60Thr
- ESP rs141689348
- ExAC rs141689348
- TOPMed rs141689348
- gnomAD rs141689348
- Missense
- Variant Prioritization Score for Impact Estimate 0.303
- REVEL 0.18
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.03
- MetaSVM -1.07
- CADD 16.30
- Most common in the 1KG:MSL population (allele frequency 0.31)
- Structural context available