L25V (p.Leu25Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
L25V (p.Leu25Val) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. Clinical records from ClinVar, EBI, 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 0.30 / 1. The record also includes population frequency data and structural context.
L25V (p.Leu25Val) variant details
- p.Leu25Val
- rs1389822103
- ClinGen CA385496033
- ClinVar RCV003752461
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.301
- REVEL 0.08
- CADD 19.40
- PolyPhen-2 0.00
- SIFT 0.30
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00031)
- Structural context available