R54W (p.Arg54Trp) variant of VPS35 (Q96QK1)
R54W (p.Arg54Trp) 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 0.62 / 1. The record also includes population frequency data and structural context.
R54W (p.Arg54Trp) variant details
- p.Arg54Trp
- rs186122975
- 1000Genomes rs186122975
- ESP rs186122975
- ExAC rs186122975
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.618
- REVEL 0.70
- CADD 29.30
- PolyPhen-2 0.98
- SIFT 0.01
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the 1KG:FIN population (allele frequency 0.0051)
- Structural context available