Y78C (p.Tyr78Cys) variant of KIF5A (Kinesin heavy chain isoform 5A)
Y78C (p.Tyr78Cys) in KIF5A (Kinesin heavy chain isoform 5A) 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 0.71 / 1. The record also includes population frequency data and structural context.
Y78C (p.Tyr78Cys) variant details
- p.Tyr78Cys
- rs2140158848
- ClinGen CA385493245
- ClinVar RCV002262388
- Ensembl rs2140158848
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.71
- REVEL 0.75
- CADD 29.00
- PolyPhen-2 0.54
- SIFT 0.01
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available