T58S (p.Thr58Ser) variant of KIF5A (Kinesin heavy chain isoform 5A)
T58S (p.Thr58Ser) in KIF5A (Kinesin heavy chain isoform 5A) is a missense change. 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.
T58S (p.Thr58Ser) variant details
- p.Thr58Ser
- gnomAD rs1348634786
- Missense
- Variant Prioritization Score for Impact Estimate 0.305
- REVEL 0.11
- CADD 20.20
- PolyPhen-2 0.03
- SIFT 0.30
- Most common in the HGDP:MAKRANI population (allele frequency 0.023)
- Structural context available