A100T (p.Ala100Thr) variant of MSI1 (O43347)
A100T (p.Ala100Thr) in MSI1 (O43347) 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 0.57 / 1. The record also includes population frequency data and structural context.
A100T (p.Ala100Thr) variant details
- p.Ala100Thr
- NCI-TCGA Cosmic COSV5745
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.574
- REVEL 0.46
- CADD 22.90
- PolyPhen-2 0.12
- SIFT 0.13
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the African/African-American population (allele frequency 0.00041)
- Structural context available