R136Q (p.Arg136Gln) variant of SV2A (Synaptic vesicle glycoprotein 2A)
R136Q (p.Arg136Gln) 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 0.19 / 1. The record also includes population frequency data and structural context.
R136Q (p.Arg136Gln) variant details
- p.Arg136Gln
- rs200722955
- NCI-TCGA Cosmic COSV6496
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.186
- REVEL 0.04
- ESM-1b 0.00
- AlphaMissense 0.08
- MetaLR 0.07
- MetaSVM -1.09
- CADD 15.20
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.5e-05)
- Structural context available