R216C (p.Arg216Cys) variant of KIF1A (Kinesin-like protein KIF1A)
R216C (p.Arg216Cys) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Spastic paraplegia 30A, autosomal dominant; not provided; PEHO syndrome. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
R216C (p.Arg216Cys) variant details
- p.Arg216Cys
- rs797045164
- ClinGen CA204974
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57482
- Pathogenic/Likely pathogenic
- Spastic paraplegia 30A, autosomal dominant; not provided; PEHO syndrome
- Missense
- Variant Prioritization Score for Impact Estimate 0.936
- AlphaMissense 1.00
- MetaLR 0.89
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Spastic paraplegia 30A, autosomal dominant; not provided; PEHO s)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)
- Cited in: Mobility Characteristics of Children with Spastic Paraplegia Due to a Mutation in the KIF1A Gene. (PMID 31805580)