V50I (p.Val50Ile) variant of KIF11 (Kinesin-like protein KIF11)
V50I (p.Val50Ile) in KIF11 (Kinesin-like protein KIF11) is a missense change. Clinical records from EBI and UniProt describe it as likely benign. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
V50I (p.Val50Ile) variant details
- p.Val50Ile
- ESP rs376032374
- ExAC rs376032374
- TOPMed rs376032374
- gnomAD rs376032374
- Likely benign
- Missense
- Variant Prioritization Score for Impact Estimate 0.329
- REVEL 0.18
- CADD 19.70
- PolyPhen-2 0.01
- SIFT 0.31
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the Latino/Admixed American population (allele frequency 6.5e-05)
- Structural context available