A22V (p.Ala22Val) variant of KIF5A (Kinesin heavy chain isoform 5A)
A22V (p.Ala22Val) 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 not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.34 / 1. The record also includes structural context.
A22V (p.Ala22Val) variant details
- p.Ala22Val
- rs745558435
- ClinGen CA385495989
- ClinVar RCV001755195
- ExAC rs745558435
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.342
- AlphaMissense 0.24
- MetaLR 0.16
- MetaSVM -1.04
- PolyPhen-2 0.00
- SIFT 0.16
- EVE 0.24
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available