R136L (p.Arg136Leu) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R136L (p.Arg136Leu) in SV2A (Synaptic vesicle glycoprotein 2A) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.11 / 1. The record also includes structural context.
R136L (p.Arg136Leu) variant details
- p.Arg136Leu
- NCI-TCGA Cosmic COSV6496
- cosmic curated COSV64964
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.111
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.10
- MetaLR 0.05
- MetaSVM -1.11
- SIFT 0.17
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available