V41I (p.Val41Ile) variant of KIF5A (Kinesin heavy chain isoform 5A)
V41I (p.Val41Ile) 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 0.17 / 1. The record also includes population frequency data and structural context.
V41I (p.Val41Ile) variant details
- p.Val41Ile
- rs1881531764
- ClinGen CA385496403
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54054
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.07
- CADD 17.60
- PolyPhen-2 0.00
- SIFT 0.51
- ClinVar: Uncertain significance (Spastic paraplegia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available