L25R (p.Leu25Arg) variant of KIF5A (Kinesin heavy chain isoform 5A)
L25R (p.Leu25Arg) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Spastic paraplegia. The available variant effect predictions contribute to a CATVariant prioritization score of 0.33 / 1. The record also includes population frequency data and structural context.
L25R (p.Leu25Arg) variant details
- p.Leu25Arg
- ExAC rs771847226
- gnomAD rs771847226
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.331
- REVEL 0.14
- CADD 21.60
- PolyPhen-2 0.00
- SIFT 0.55
- ClinVar: Uncertain significance (Spastic paraplegia)
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 1.7e-05)
- Structural context available