A269D (p.Ala269Asp) variant of KIF1A (Kinesin-like protein KIF1A)
A269D (p.Ala269Asp) 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 0.46 / 1.
A269D (p.Ala269Asp) variant details
- p.Ala269Asp
- rs1469297168
- ClinGen CA351302683
- ClinVar RCV002466344
- Likely pathogenic
- Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.461
- AlphaMissense 0.99
- MetaLR 0.38
- MetaSVM -0.12
- PolyPhen-2 0.93
- SIFT 0.00
- EVE 0.42
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 30)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic