D69N (p.Asp69Asn) variant of KIF11 (Kinesin-like protein KIF11)
D69N (p.Asp69Asn) in KIF11 (Kinesin-like protein KIF11) 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 0.77 / 1. The record also includes population frequency data, published literature, and structural context.
D69N (p.Asp69Asn) variant details
- p.Asp69Asn
- rs796052144
- ClinGen CA204069
- ClinVar RCV000190130
- ClinVar RCV006555649
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.766
- REVEL 0.74
- CADD 27.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Structural context available
- Cited in: Long QT Syndrome Overview. (PMID 20301308)
- Cited in: Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited… (PMID 23994779)