E14A (p.Glu14Ala) variant of KIF11 (Kinesin-like protein KIF11)
E14A (p.Glu14Ala) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely benign in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
E14A (p.Glu14Ala) variant details
- p.Glu14Ala
- rs1200677717
- ClinGen CA377585705
- ClinVar RCV002650766
- TOPMed rs1200677717
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.366
- REVEL 0.20
- CADD 25.00
- PolyPhen-2 0.08
- SIFT 0.00
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the African/African-American population (allele frequency 4.8e-05)
- Structural context available