V50L (p.Val50Leu) variant of KIF11 (Kinesin-like protein KIF11)
V50L (p.Val50Leu) 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.
V50L (p.Val50Leu) variant details
- p.Val50Leu
- rs376032374
- ClinGen CA5603914
- ClinVar RCV001346277
- ESP rs376032374
- Likely benign
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.373
- REVEL 0.26
- CADD 21.00
- PolyPhen-2 0.03
- SIFT 0.14
- ClinVar: Likely benign (not provided)
- EBI: Likely benign
- UniProt: Likely benign
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available