L119R (p.Leu119Arg) variant of SV2A (Synaptic vesicle glycoprotein 2A)
L119R (p.Leu119Arg) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.24 / 1. The record also includes population frequency data and structural context.
L119R (p.Leu119Arg) variant details
- p.Leu119Arg
- Ensembl rs1482538332
- Missense
- Variant Prioritization Score for Impact Estimate 0.24
- REVEL 0.09
- ESM-1b 0.00
- AlphaMissense 0.09
- MetaLR 0.06
- MetaSVM -1.06
- CADD 21.50
- Most common in the African/African-American population (allele frequency 2.4e-05)
- Structural context available