P18S (p.Pro18Ser) variant of KIF5A (Kinesin heavy chain isoform 5A)
P18S (p.Pro18Ser) 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 0.82 / 1. The record also includes population frequency data and structural context.
P18S (p.Pro18Ser) variant details
- p.Pro18Ser
- rs770302674
- ClinGen CA6652492
- NCI-TCGA Cosmic COSV5405
- cosmic curated COSV54057
- Uncertain significance
- Spastic paraplegia
- Missense
- Variant Prioritization Score for Impact Estimate 0.822
- REVEL 0.85
- CADD 26.90
- PolyPhen-2 0.98
- SIFT 0.00
- 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