T54M (p.Thr54Met) variant of MYO7A (Unconventional myosin-VIIa)
T54M (p.Thr54Met) in MYO7A (Unconventional myosin-VIIa) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.27 / 1. The record also includes population frequency data and structural context.
T54M (p.Thr54Met) variant details
- p.Thr54Met
- ExAC rs782568869
- TOPMed rs782568869
- gnomAD rs782568869
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.266
- REVEL 0.20
- CADD 22.20
- PolyPhen-2 0.01
- SIFT 0.02
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the East Asian population (allele frequency 5e-05)
- Structural context available