R216H (p.Arg216His) variant of KIF1A (Kinesin-like protein KIF1A)
R216H (p.Arg216His) 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 PEHO syndrome; Intellectual disability, autosomal dominant 9; not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
R216H (p.Arg216His) variant details
- p.Arg216His
- rs672601368
- ClinGen CA204977
- NCI-TCGA Cosmic COSV5748
- cosmic curated COSV57482
- Pathogenic/Likely pathogenic
- PEHO syndrome; Intellectual disability, autosomal dominant 9; not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.935
- AlphaMissense 0.99
- MetaLR 0.89
- MetaSVM 1.08
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (PEHO syndrome; Intellectual disability, autosomal dominant 9; no)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Cited in: De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and… (PMID 25265257)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)