N272S (p.Asn272Ser) variant of KIF1A (Kinesin-like protein KIF1A)
N272S (p.Asn272Ser) 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 Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.79 / 1. The record also includes published literature.
N272S (p.Asn272Ser) variant details
- p.Asn272Ser
- rs876661283
- ClinGen CA10577247
- ClinVar RCV000213797
- ClinVar RCV001854764
- Pathogenic/Likely pathogenic
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.786
- AlphaMissense 0.88
- MetaLR 0.73
- MetaSVM 0.61
- PolyPhen-2 0.38
- SIFT 0.00
- EVE 0.95
- ClinVar: Pathogenic/Likely pathogenic (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)