K24R (p.Lys24Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
K24R (p.Lys24Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.22 / 1. The record also includes population frequency data and structural context.
K24R (p.Lys24Arg) variant details
- p.Lys24Arg
- Ensembl rs781826853
- Missense
- Variant Prioritization Score for Impact Estimate 0.221
- REVEL 0.02
- ESM-1b 0.00
- AlphaMissense 0.07
- MetaLR 0.01
- MetaSVM -0.97
- CADD 16.80
- Most common in the 1KG:MSL population (allele frequency 0.19)
- Structural context available