Y338C (p.Tyr338Cys) variant of KIF1A (Kinesin-like protein KIF1A)
Y338C (p.Tyr338Cys) 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 Hereditary spastic paraplegia 30. The available variant effect predictions contribute to a CATVariant prioritization score of 0.70 / 1.
Y338C (p.Tyr338Cys) variant details
- p.Tyr338Cys
- rs2125976707
- ClinGen CA351296704
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10024
- Pathogenic
- Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.696
- AlphaMissense 0.98
- MetaLR 0.62
- MetaSVM 0.39
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.80
- ClinVar: Pathogenic (Hereditary spastic paraplegia 30)
- EBI: Pathogenic
- UniProt: Pathogenic