K420R (p.Lys420Arg) variant of UBE3A (Ubiquitin-protein ligase E3A)
K420R (p.Lys420Arg) in UBE3A (Ubiquitin-protein ligase E3A) 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 0.37 / 1. The record also includes population frequency data.
K420R (p.Lys420Arg) variant details
- p.Lys420Arg
- rs781211197
- ExAC rs781211197
- gnomAD rs781211197
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- AlphaMissense 0.09
- MetaLR 0.21
- MetaSVM -0.90
- PolyPhen-2 0.01
- SIFT 0.35
- MutPred 0.23
- UniProt: Variant assessed as somatic; moderate impact.
- Population evidence available