V247M (p.Val247Met) variant of KIF1A (Kinesin-like protein KIF1A)
V247M (p.Val247Met) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes population frequency data and published literature.
V247M (p.Val247Met) variant details
- p.Val247Met
- rs2538278006
- ClinGen CA351303329
- ClinVar RCV003133875
- ClinVar RCV004765757
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.783
- REVEL 0.80
- CADD 26.60
- PolyPhen-2 0.61
- SIFT 0.00
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Likely pathogenic (in KAND)
- UniProt: Likely pathogenic (in KAND)
- Population evidence available
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)