K11T (p.Lys11Thr) variant of KIF5A (Kinesin heavy chain isoform 5A)
K11T (p.Lys11Thr) 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; not specified; Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.63 / 1. The record also includes population frequency data and structural context.
K11T (p.Lys11Thr) variant details
- p.Lys11Thr
- rs748864821
- ClinGen CA6652491
- ClinVar RCV002013088
- ClinVar RCV004774602
- Uncertain significance
- not provided; not specified; Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.629
- REVEL 0.61
- CADD 28.60
- PolyPhen-2 0.69
- SIFT 0.00
- ClinVar: Uncertain significance (not provided; not specified; Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the HGDP:BURUSHO population (allele frequency 0.042)
- Structural context available