G117V (p.Gly117Val) variant of KIF1A (Kinesin-like protein KIF1A)
G117V (p.Gly117Val) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Inborn genetic diseases. The available variant effect predictions contribute to a CATVariant prioritization score of 0.87 / 1. The record also includes population frequency data, published literature, and structural context.
G117V (p.Gly117Val) variant details
- p.Gly117Val
- rs1200817308
- ClinGen CA351309985
- ClinVar RCV000624693
- UniProt VAR 086850
- Pathogenic
- Inborn genetic diseases
- Missense
- Variant Prioritization Score for Impact Estimate 0.866
- REVEL 0.89
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic (Inborn genetic diseases)
- EBI: Pathogenic (in KAND)
- UniProt: Pathogenic (in KAND)
- Population evidence available
- Structural context available
- Cited in: Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological… (PMID 33880452)
- Cited in: Specific guidelines for assessing and improving the methodological quality of economic evaluations of newborn screening. (PMID 22947299)