A334T (p.Ala334Thr) variant of KIF1A (Kinesin-like protein KIF1A)
A334T (p.Ala334Thr) in KIF1A (Kinesin-like protein KIF1A) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hereditary spastic paraplegia 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.74 / 1. The record also includes population frequency data.
A334T (p.Ala334Thr) variant details
- p.Ala334Thr
- rs2537957328
- ClinGen CA351296782
- ClinVar RCV003322680
- Likely pathogenic
- Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.737
- REVEL 0.73
- CADD 26.70
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 30)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available