A206V (p.Ala206Val) variant of KIF1A (Kinesin-like protein KIF1A)
A206V (p.Ala206Val) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance in the context of in KAND. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
A206V (p.Ala206Val) variant details
- p.Ala206Val
- rs750125764
- cosmic curated COSV57499
- UniProt VAR 086860
- ExAC rs750125764
- Uncertain significance
- in KAND
- Missense
- Variant Prioritization Score for Impact Estimate 0.805
- REVEL 0.83
- CADD 25.70
- PolyPhen-2 1.00
- SIFT 0.00
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Most common in the Ashkenazi Jewish population (allele frequency 3.8e-05)
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)