R226C (p.Arg226Cys) variant of VPS35 (Q96QK1)
R226C (p.Arg226Cys) 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.
R226C (p.Arg226Cys) variant details
- p.Arg226Cys
- rs1461190074
- NCI-TCGA Cosmic COSV5447
- gnomAD rs1461190074
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.754
- REVEL 0.70
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 1.8e-06)
- Structural context available