G321S (p.Gly321Ser) variant of KIF1A (Kinesin-like protein KIF1A)
G321S (p.Gly321Ser) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.85 / 1. The record also includes population frequency data and published literature.
G321S (p.Gly321Ser) variant details
- p.Gly321Ser
- rs2537958110
- ClinGen CA351297017
- ClinVar RCV002837480
- ClinVar RCV003886585
- Conflicting interpretations
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.854
- REVEL 0.92
- CADD 28.60
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)