T38S (p.Thr38Ser) variant of MCL1 (Q07820)
T38S (p.Thr38Ser) in MCL1 (Q07820) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified. The available variant effect predictions contribute to a CATVariant prioritization score of 0.05 / 1. The record also includes population frequency data and structural context.
T38S (p.Thr38Ser) variant details
- p.Thr38Ser
- 1000Genomes rs768191690
- ExAC rs768191690
- TOPMed rs768191690
- gnomAD rs768191690
- Uncertain significance
- not specified
- Missense
- Variant Prioritization Score for Impact Estimate 0.0487
- REVEL 0.01
- CADD 0.04
- PolyPhen-2 0.00
- SIFT 0.96
- ClinVar: Uncertain significance (not specified)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:IBS population (allele frequency 0.0048)
- Structural context available