A2V (p.Ala2Val) variant of KIF11 (Kinesin-like protein KIF11)
A2V (p.Ala2Val) 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 0.45 / 1. The record also includes population frequency data and structural context.
A2V (p.Ala2Val) variant details
- p.Ala2Val
- rs1340206177
- ClinGen CA377585516
- NCI-TCGA Cosmic COSV5327
- ClinVar RCV002801431
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.449
- REVEL 0.20
- CADD 27.70
- PolyPhen-2 0.75
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available
- Structural context available