V247A (p.Val247Ala) variant of KIF1A (Kinesin-like protein KIF1A)
V247A (p.Val247Ala) 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 0.72 / 1. The record also includes population frequency data and published literature.
V247A (p.Val247Ala) variant details
- p.Val247Ala
- rs2538277955
- ClinGen CA351303308
- ClinVar RCV002705860
- Uncertain significance
- Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory, type 2C; Intel
- Missense
- Variant Prioritization Score for Impact Estimate 0.719
- REVEL 0.84
- CADD 29.20
- PolyPhen-2 0.93
- SIFT 0.00
- ClinVar: Uncertain significance (Hereditary spastic paraplegia 30; Neuropathy, hereditary sensory)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Population evidence available
- Cited in: Hereditary Sensory and Autonomic Neuropathy Type II. (PMID 21089229)