M196T (p.Met196Thr) variant of KIF1A (Kinesin-like protein KIF1A)
M196T (p.Met196Thr) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance 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 0.77 / 1. The record also includes population frequency data and published literature.
M196T (p.Met196Thr) variant details
- p.Met196Thr
- rs2538350980
- ClinGen CA351305568
- ClinVar RCV002942669
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.765
- REVEL 0.86
- CADD 26.40
- PolyPhen-2 0.96
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 9e-07)
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)