V35I (p.Val35Ile) variant of SYNGAP1 (Q96PV0)
V35I (p.Val35Ile) in SYNGAP1 (Q96PV0) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
V35I (p.Val35Ile) variant details
- p.Val35Ile
- rs1212521412
- gnomAD rs1212521412
- NCI-TCGA Cosmic COSV5338
- cosmic curated COSV53381
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.494
- CADD 19.30
- PolyPhen-2 0.37
- SIFT 0.11
- ClinVar: Uncertain significance (not specified)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available