E233D (p.Glu233Asp) variant of KIF1A (Kinesin-like protein KIF1A)
E233D (p.Glu233Asp) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Inborn genetic diseases; Neuropathy, hereditary sensory, type 2C; Intellectual d. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and published literature.
E233D (p.Glu233Asp) variant details
- p.Glu233Asp
- rs373882732
- ClinGen CA2208702
- ClinVar RCV000695006
- ClinVar RCV002369880
- Conflicting interpretations
- Inborn genetic diseases; Neuropathy, hereditary sensory, type 2C; Intellectual d
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.25
- CADD 20.10
- PolyPhen-2 0.00
- SIFT 0.32
- ClinVar: Conflicting classifications of pathogenicity (Inborn genetic diseases; Neuropathy, hereditary sensory, type 2C)
- EBI: Likely benign (in dbSNP:rs373882732)
- UniProt: Likely benign (in dbSNP:rs373882732)
- Most common in the African/African-American population (allele frequency 4.8e-05)
- 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)