R6K (p.Arg6Lys) variant of MECOM (Q03112)
R6K (p.Arg6Lys) in MECOM (Q03112) 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 0.30 / 1.
R6K (p.Arg6Lys) variant details
- p.Arg6Lys
- rs1032716797
- Ensembl rs1032716797
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.297
- AlphaMissense 0.32
- MetaLR 0.05
- MetaSVM -1.15
- SIFT 0.00
- MutPred 0.60
- UniProt: Variant assessed as somatic; moderate impact.