G102D (p.Gly102Asp) variant of KIF1A (Kinesin-like protein KIF1A)
G102D (p.Gly102Asp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Intellectual disability, autosomal dominant 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.89 / 1. The record also includes population frequency data, published literature, and structural context.
G102D (p.Gly102Asp) variant details
- p.Gly102Asp
- rs672601363
- ClinGen CA212615
- ClinVar RCV000149475
- UniProt VAR 075473
- Likely pathogenic
- Intellectual disability, autosomal dominant 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.888
- REVEL 0.98
- CADD 26.10
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Intellectual disability, autosomal dominant 9)
- EBI: Pathogenic (in NESCAVS)
- UniProt: Pathogenic (in NESCAVS)
- Population evidence available
- Structural context available
- 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)