K127R (p.Lys127Arg) variant of VPS35 (Q96QK1)
K127R (p.Lys127Arg) in VPS35 (Q96QK1) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.32 / 1. The record also includes population frequency data and structural context.
K127R (p.Lys127Arg) variant details
- p.Lys127Arg
- TOPMed rs1355860794
- gnomAD rs1355860794
- Uncertain significance
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.323
- REVEL 0.12
- CADD 22.60
- PolyPhen-2 0.01
- SIFT 0.40
- ClinVar: Uncertain significance (Inborn genetic diseases)
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 1.5e-05)
- Structural context available