I298V (p.Ile298Val) variant of VPS35 (Q96QK1)
I298V (p.Ile298Val) 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 0.28 / 1. The record also includes population frequency data and structural context.
I298V (p.Ile298Val) variant details
- p.Ile298Val
- rs758068523
- NCI-TCGA Cosmic COSV1001
- ExAC rs758068523
- gnomAD rs758068523
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.283
- REVEL 0.19
- CADD 22.40
- PolyPhen-2 0.22
- SIFT 0.11
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available
- Structural context available