K3R (p.Lys3Arg) variant of UBE3A (Ubiquitin-protein ligase E3A)
K3R (p.Lys3Arg) in UBE3A (Ubiquitin-protein ligase E3A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data, experimental measurements, and structural context.
K3R (p.Lys3Arg) variant details
- p.Lys3Arg
- rs751766501
- ClinGen CA7435748
- ClinVar RCV001573760
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- CADD 23.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 7.3e-05)
- Structural context available
- UBE3A Ubiquitin-protein ligase E3A, N-terminal zinc-binding domain domainome 1.0: score -0.0214