G251E (p.Gly251Glu) variant of KIF1A (Kinesin-like protein KIF1A)
G251E (p.Gly251Glu) 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 Intellectual disability, autosomal dominant 9. The available variant effect predictions contribute to a CATVariant prioritization score of 0.86 / 1. The record also includes population frequency data.
G251E (p.Gly251Glu) variant details
- p.Gly251Glu
- rs2538277557
- ClinGen CA351303203
- ClinVar RCV003988912
- Uncertain significance
- Intellectual disability, autosomal dominant 9
- Missense
- Variant Prioritization Score for Impact Estimate 0.862
- REVEL 0.94
- CADD 25.50
- PolyPhen-2 0.98
- SIFT 0.00
- ClinVar: Uncertain significance (Intellectual disability, autosomal dominant 9)
- EBI: Variant of uncertain significance (in KAND)
- UniProt: Uncertain significance (in KAND)
- Population evidence available