A43T (p.Ala43Thr) variant of VIM (Vimentin)
A43T (p.Ala43Thr) in VIM (Vimentin) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.25 / 1. The record also includes population frequency data and structural context.
A43T (p.Ala43Thr) variant details
- p.Ala43Thr
- rs748519640
- ExAC rs748519640
- gnomAD rs748519640
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.252
- REVEL 0.20
- CADD 22.10
- PolyPhen-2 0.19
- SIFT 0.37
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the Non-Finnish European population (allele frequency 4.5e-06)
- Structural context available