T76A (p.Thr76Ala) variant of KIF11 (Kinesin-like protein KIF11)
T76A (p.Thr76Ala) 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 0.36 / 1. The record also includes population frequency data and structural context.
T76A (p.Thr76Ala) variant details
- p.Thr76Ala
- rs770145180
- ClinGen CA5603956
- ClinVar RCV003672241
- ExAC rs770145180
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.361
- REVEL 0.28
- CADD 17.90
- PolyPhen-2 0.01
- SIFT 1.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the South Asian population (allele frequency 1.2e-05)
- Structural context available