A101V (p.Ala101Val) variant of KIF1A (Kinesin-like protein KIF1A)
A101V (p.Ala101Val) 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 0.76 / 1. The record also includes population frequency data and structural context.
A101V (p.Ala101Val) variant details
- p.Ala101Val
- rs2126091776
- ClinGen CA351310258
- ClinVar RCV003153103
- Likely pathogenic
- Hereditary spastic paraplegia 30
- Missense
- Variant Prioritization Score for Impact Estimate 0.76
- REVEL 0.76
- CADD 26.70
- PolyPhen-2 0.94
- SIFT 0.00
- ClinVar: Likely pathogenic (Hereditary spastic paraplegia 30)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Population evidence available
- Structural context available