R191C (p.Arg191Cys) variant of KIF5A (Kinesin heavy chain isoform 5A)
R191C (p.Arg191Cys) 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 Spastic paraplegia; not provided; Hereditary spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and structural context.
R191C (p.Arg191Cys) variant details
- p.Arg191Cys
- rs769315791
- ClinGen CA6652629
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54054
- Uncertain significance
- Spastic paraplegia; not provided; Hereditary spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.849
- REVEL 0.88
- CADD 31.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (Spastic paraplegia; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Finnish in Finland (FIN) population (allele frequency 0.00091)
- Structural context available