A255V (p.Ala255Val) variant of KIF1A (Kinesin-like protein KIF1A)
A255V (p.Ala255Val) 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 Spastic paraplegia 30B, autosomal recessive. The available variant effect predictions contribute to a CATVariant prioritization score of 0.80 / 1. The record also includes population frequency data and published literature.
A255V (p.Ala255Val) variant details
- p.Ala255Val
- rs387906798
- ClinGen CA351303108
- ClinVar RCV002877610
- ClinVar RCV003320393
- Pathogenic
- Spastic paraplegia 30B, autosomal recessive
- Missense
- Variant Prioritization Score for Impact Estimate 0.796
- REVEL 0.81
- CADD 27.60
- PolyPhen-2 0.86
- SIFT 0.00
- ClinVar: Pathogenic (Spastic paraplegia 30B, autosomal recessive)
- EBI: Pathogenic (in SPG30B)
- UniProt: Pathogenic (in SPG30B)
- Population evidence available
- Cited in: Exome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic… (PMID 21487076)
- Cited in: KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the… (PMID 22258533)