G321D (p.Gly321Asp) variant of KIF1A (Kinesin-like protein KIF1A)
G321D (p.Gly321Asp) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.84 / 1. The record also includes population frequency data.
G321D (p.Gly321Asp) variant details
- p.Gly321Asp
- rs2537958061
- ClinGen CA351297014
- ClinVar RCV003142597
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.842
- REVEL 0.92
- CADD 25.30
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Population evidence available