R196Q (p.Arg196Gln) variant of VPS35 (Q96QK1)
R196Q (p.Arg196Gln) in VPS35 (Q96QK1) 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 0.84 / 1. The record also includes population frequency data and structural context.
R196Q (p.Arg196Gln) variant details
- p.Arg196Gln
- NCI-TCGA Cosmic COSV5447
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.841
- REVEL 0.86
- CADD 28.90
- PolyPhen-2 0.95
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 3.6e-06)
- Structural context available