K29R (p.Lys29Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
K29R (p.Lys29Arg) 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.
K29R (p.Lys29Arg) variant details
- p.Lys29Arg
- gnomAD rs1553764170
- Missense
- Variant Prioritization Score for Impact Estimate 0.251
- REVEL 0.11
- ESM-1b 0.00
- AlphaMissense 0.11
- MetaLR 0.05
- MetaSVM -1.10
- CADD 23.60
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available