R216P (p.Arg216Pro) variant of KIF1A (Kinesin-like protein KIF1A)
R216P (p.Arg216Pro) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Intellectual disability, autosomal dominant 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.94 / 1. The record also includes published literature.
R216P (p.Arg216Pro) variant details
- p.Arg216Pro
- rs672601368
- UniProt VAR 075483
- Conflicting interpretations
- Intellectual disability, autosomal dominant 9
- 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: Conflicting classifications of pathogenicity (Intellectual disability, autosomal dominant 9)
- 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: Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual… (PMID 21376300)