T35A (p.Thr35Ala) variant of KIF1A (Kinesin-like protein KIF1A)
T35A (p.Thr35Ala) 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 Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data and published literature.
T35A (p.Thr35Ala) variant details
- p.Thr35Ala
- rs2538654464
- ClinGen CA351315403
- ClinVar RCV003792212
- Likely pathogenic
- Neuropathy, hereditary sensory, type 2C; Hereditary spastic paraplegia 30; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.743
- REVEL 0.82
- CADD 26.60
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Likely pathogenic (Neuropathy, hereditary sensory, type 2C; Hereditary spastic para)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)