V220I (p.Val220Ile) variant of KIF1A (Kinesin-like protein KIF1A)
V220I (p.Val220Ile) 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 Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi. The available variant effect predictions contribute to a CATVariant prioritization score of 0.57 / 1. The record also includes population frequency data and published literature.
V220I (p.Val220Ile) variant details
- p.Val220Ile
- rs201314877
- ClinGen CA2208711
- ClinVar RCV000639775
- ClinVar RCV001662688
- Uncertain significance
- Neuropathy, hereditary sensory, type 2C; Intellectual disability, autosomal domi
- Missense
- Variant Prioritization Score for Impact Estimate 0.568
- REVEL 0.43
- CADD 24.40
- PolyPhen-2 0.83
- SIFT 0.00
- ClinVar: Uncertain significance (Neuropathy, hereditary sensory, type 2C; Intellectual disability)
- EBI: Pathogenic
- UniProt: Pathogenic
- Most common in the 1KG:CHB population (allele frequency 0.0049)
- Cited in: De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy. (PMID 26125038)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)