R138C (p.Arg138Cys) variant of VPS35 (Q96QK1)
R138C (p.Arg138Cys) 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 0.75 / 1. The record also includes population frequency data and structural context.
R138C (p.Arg138Cys) variant details
- p.Arg138Cys
- NCI-TCGA TCGA novel
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.755
- REVEL 0.70
- CADD 31.00
- PolyPhen-2 0.94
- SIFT 0.03
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 2.7e-06)
- Structural context available